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Ingrid Scheffer

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Sarah E Heron; Jacinta M McMahon; Yeh Sze Ong; Ingrid E Scheffer; Simone C Yendle; Samuel F Berkovic; Leanne M Dibbens
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Michael S Hildebrand; Ingrid E Scheffer; Richard J H Smith; Hans-Henrik M Dahl; John Anthony Damiano; Samuel F Berkovic
Recent advances in the molecular genetics of epilepsy.
Simone Mandelstam; George McGillivray; S Robertson; A Sandow; Samuel F Berkovic; Renzo Guerrini; Graeme D Jackson; Richard J Leventer; M van Kogelenberg; Ingrid E Scheffer
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.

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2013: Sarah E Heron; Jacinta M McMahon; Yeh Sze Ong; Ingrid E Scheffer; Simone C Yendle; Samuel F Berkovic; Leanne M Dibbens
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Epilepsia 2013;54(5):e86-9.
2013: Michael S Hildebrand; Ingrid E Scheffer; Richard J H Smith; Hans-Henrik M Dahl; John Anthony Damiano; Samuel F Berkovic
Recent advances in the molecular genetics of epilepsy.
Journal of medical genetics 2013;50(5):271-9.
2013: Simone Mandelstam; George McGillivray; S Robertson; A Sandow; Samuel F Berkovic; Renzo Guerrini; Graeme D Jackson; Richard J Leventer; M van Kogelenberg; Ingrid E Scheffer
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.
AJNR. American journal of neuroradiology 2013;34(2):432-8.
2013: Ingrid E Scheffer; Saul A Mullen
Epilepsy in 2012: Advances in epilepsy shed light on key questions.
Nature reviews. Neurology 2013;9(2):66-8.
2013: Patrick W Carney; A Simon Harvey; Graeme D Jackson; Samuel F Berkovic; Ingrid E Scheffer
Siblings with refractory occipital epilepsy showing localized network activity on EEG-fMRI.
Epilepsia 2013;54(2):e28-32.
2013: Meng-Han Tsai; Samantha J Turner; Danya F Vears; Samuel F Berkovic; Lynette G Sadleir; Robert L Smith; Ingrid E Scheffer
Clinical genetic study of the epilepsy-aphasia spectrum.
Epilepsia 2013;54(2):280-7.
2013: Young Ok Kim; Carla Marini; Jacinta M McMahon; Davide Mei; Rima Nabbout; Samuel F Berkovic; Nicole Chemaly; Peter De Jonghe; Leanne M Dibbens; Renzo Guerrini; Xenia Iona; Arvid Suls; Ingrid E Scheffer
Do mutations in SCN1B cause Dravet syndrome?
Epilepsy research 2013;103(1):97-100.
2012: Lynette G Sadleir; Andrew Bleasel; Natalie Redshaw; Brigid Regan; Danya Vears; Ingrid E Scheffer
Family studies of individuals with eyelid myoclonia with absences.
Epilepsia 2012;53(12):2141-8.
2012: Todor Arsov; Samuel F Berkovic; Douglas E Crompton; Hans-Henrik M Dahl; John A Damiano; Linda L Huh; Kate M Lawrence; Saul A Mullen; Melinda Nolan; Lynette G Sadleir; Anaïs Thouin; Helen Young; Ingrid E Scheffer
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Epilepsia 2012;53(12):e204-7.
2012: Ingrid E Scheffer; Zaid Afawi; Ian Andrews; Samuel F Berkovic; Hadassa Goldberg-Stern; Bronwyn E Grinton; Renzo Guerrini; Sarah E Heron; Xenia Iona; Maria Kinali; Sara Kivity; Carla Marini; Lynette G Sadleir; Leanne M Dibbens
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Neurology 2012;79(21):2104-8.
2012: Todor Arsov; Samuel F Berkovic; John A Damiano; Hadassa Goldberg-Stern; Sara Kivity; Kate M Lawrence; Saul A Mullen; Steven Petrou; A Marie Phillips; Sue Rogers; Zaid Afawi; Chantal Trager; Ingrid E Scheffer
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Annals of neurology 2012;72(5):807-15.
2012: Sarah E Heron; Esther Kahana; Amos Korczyn; Laura Licchetta; Aziz Mazarib; Lino Nobili; Karen L Oliver; Steven Petrou; Giuseppe Plazzi; Ingrid E Scheffer; Katherine R Smith; Zaid Afawi; Melanie Bahlo; Samuel F Berkovic; Leanne M Dibbens
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
Nature genetics 2012;44(11):1188-90.
2012: Tiziana Pisano; Stephen Robertson; Felix Rosenow; Ingrid E Scheffer; Waney Squier; Pierre Thomas; Gaetano Tortorella; Eva Andermann; Frederick Andermann; A James Barkovich; Samuel F Berkovic; Susan Blaser; William B Dobyns; Richard J Leventer; Carla Marini; George McGillivray; Elena Parrini; Renzo Guerrini
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Neurology 2012;79(12):1244-51.
2012: Leanne M Dibbens; Katherine L Helbig; Bree L Hodgson; John C Mulley; Karen L Oliver; Samuel F Berkovic; Ingrid E Scheffer
Rare protein sequence variation in SV2A gene does not affect response to levetiracetam.
Epilepsy research 2012;101(3):277-9.
2012: Karl Martin Klein; John C Mulley; Terence J O'Brien; Kavita Praveen; Samuel F Berkovic; Simon Foote; Sarah E Heron; Ingrid E Scheffer
Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.
Epilepsia 2012;53(8):e151-5.
2012: Ingrid E Scheffer
Epilepsy: a classification for all seasons?
Epilepsia 2012;53 Suppl 2():6-9.
2012: Jill M Rodda; Ingrid E Scheffer; Samuel F Berkovic; Jacinta M McMahon; H Kerr Graham
Progressive gait deterioration in adolescents with Dravet syndrome.
Archives of neurology 2012;69(7):873-8.
2012: Daniel Carranza Rojo; John A Damiano; Leanne M Dibbens; Jeremy L Freeman; Deepak Gill; Xenia Iona; Richard J Leventer; Jacinta M McMahon; Todor Arsov; Samuel F Berkovic; A Simon Harvey; Angela Vincent; Ingrid E Scheffer
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Epilepsy research 2012;100(1-2):194-8.
2012: Douglas E Crompton; John W Dunne; Rosemary Harty; Kate M Lawrence; Lynette G Sadleir; Todor Arsov; Melanie Bahlo; Susannah T Bellows; Samuel F Berkovic; Catherine J Bromhead; Ingrid E Scheffer
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.
Archives of neurology 2012;69(4):474-81.
2012: Sasipa Thammongkol; Danya F Vears; Jillian Bicknell-Royle; Kellie Draffin; Judy Nation; Ingrid E Scheffer; Karen G Stewart; Mark T Mackay
Efficacy of the ketogenic diet: which epilepsies respond?
Epilepsia 2012;53(3):e55-9.
2012: Danya F Vears; A Simon Harvey; Meng-Han Tsai; Samuel F Berkovic; Patrick W Carney; Bronwyn E Grinton; Leasha M Lillywhite; Lynette G Sadleir; Ingrid E Scheffer
Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes.
Epilepsia 2012;53(2):319-24.
2012: Sarah E Heron; Bree L Hodgson; James N Hughes; Xenia Iona; Sara Kivity; Amos D Korczyn; John C Mulley; James T Pelekanos; Clair Pridmore; Lynette G Sadleir; Ingrid E Scheffer; Paul Q Thomas; Sameer M Zuberi; Zaid Afawi; Haim Bassan; Samuel F Berkovic; Mark Corbett; Alison E Gardner; Jozef Gecz; Hadassa Goldberg-Stern; Bronwyn E Grinton; Eric Haan; Eric Herlenius; Leanne M Dibbens
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
American journal of human genetics 2012;90(1):152-60.
2011: John C Mulley; Ingrid E Scheffer; Danya F Vears; Bronwyn E Grinton; Marta A Bayly; Samuel F Berkovic; Tarishi Desai; Leanne M Dibbens
Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.
Epilepsia 2011;52(10):e139-42.
2011: Leanne M Dibbens; R Kneen; M A Bayly; Sarah E Heron; T Arsov; J A Damiano; T Desai; J Gibbs; F McKenzie; John C Mulley; A Ronan; Ingrid E Scheffer
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
Neurology 2011;76(17):1514-9.
2011: Ingrid E Scheffer
Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+.
Neurology 2011;76(7):588-9.
2011: Lynette G Sadleir; Kevin Farrell; Sherry Smith; Mary B Connolly; Ingrid E Scheffer
Electroclinical features of absence seizures in sleep.
Epilepsy research 2011;93(2-3):216-20.
2011: John C Mulley; Ingrid E Scheffer; Samuel F Berkovic; Sarah E Heron; Bree Hodgson; Xenia Iona; Leanne M Dibbens
The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.
Neurology research international 2011;2011():917565.
2011: Amee D Baird; Ingrid E Scheffer; Sarah J Wilson
Mirror neuron system involvement in empathy: a critical look at the evidence.
Social neuroscience 2011;6(4):327-35.
2010: Douglas E Crompton; Ingrid E Scheffer; Isabella Taylor; Mark J Cook; Penelope A McKelvie; Danya F Vears; Kate M Lawrence; Jacinta M McMahon; Bronwyn E Grinton; Anne M McIntosh; Samuel F Berkovic
Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance.
Brain : a journal of neurology 2010;133(11):3221-31.
2010: Lynette G Sadleir; Ingrid E Scheffer
Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures.
Archives of neurology 2010;67(11):1345-9.
2010: Lata Vadlamudi; Leanne M Dibbens; Kate M Lawrence; Xenia Iona; Jacinta M McMahon; Wayne Murrell; Alan Mackay-Sim; Ingrid E Scheffer; Samuel F Berkovic
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
The New England journal of medicine 2010;363(14):1335-40.
2010: Jacinta M McMahon; Ingrid E Scheffer; Jillian K Nicholl; Wendy Waters; Helen Eyre; Lyn Hinton; Paul Nelson; Sui Yu; Leanne M Dibbens; Samuel F Berkovic; John C Mulley
Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.
Epileptic disorders : international epilepsy journal with videotape 2010;12(3):192-8.
2010: Sarah E Heron; Ingrid E Scheffer; Bronwyn E Grinton; Helen Eyre; Karen L Oliver; Sharon Bain; Samuel F Berkovic; John C Mulley
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
Epilepsia 2010;51(9):1865-9.
2010: Anne M McIntosh; Jacinta McMahon; Leanne M Dibbens; Xenia Iona; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.
Lancet neurology 2010;9(6):592-8.
2010: Richard A J Masterton; A Simon Harvey; John S Archer; Leasha M Lillywhite; David F Abbott; Ingrid E Scheffer; Graeme D Jackson
Focal epileptiform spikes do not show a canonical BOLD response in patients with benign rolandic epilepsy (BECTS).
NeuroImage 2010;51(1):252-60.
2010: Richard J Leventer; Anna Jansen; Daniela T Pilz; Neil Stoodley; Carla Marini; Francois Dubeau; Jodie Malone; L Anne Mitchell; Simone Mandelstam; Ingrid E Scheffer; Samuel F Berkovic; Frederick Andermann; Eva Andermann; Renzo Guerrini; William B Dobyns
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Brain : a journal of neurology 2010;133(Pt 5):1415-27.
2010: Leanne M Dibbens; Christopher A Reid; Bree L Hodgson; Evan A Thomas; Alison M Phillips; Elena Gazina; Brett A Cromer; Alison L Clarke; Tallie Z Baram; Ingrid E Scheffer; Samuel F Berkovic; Steven Petrou
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes.
Annals of neurology 2010;67(4):542-6.
2010: Ruth Ottman; Shinichi Hirose; Satish Jain; Holger Lerche; Iscia Lopes-Cendes; Jeffrey L Noebels; José Serratosa; Federico Zara; Ingrid E Scheffer
Genetic testing in the epilepsies--report of the ILAE Genetics Commission.
Epilepsia 2010;51(4):655-70.
2010: Kim Hynes; Patrick Tarpey; Leanne M Dibbens; Marta A Bayly; Samuel F Berkovic; Raffaella Smith; Zahyia Al Raisi; Samantha J Turner; Natasha J Brown; Tarishi D Desai; Eric Haan; Gillian Turner; John Christodoulou; Helen Leonard; Deepak Gill; Michael R Stratton; Jozef Gecz; Ingrid E Scheffer
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Journal of medical genetics 2010;47(3):211-6.
2010: Ingrid E Scheffer; Yue-Hua Zhang; Jozef Gecz; Leanne M Dibbens
Genetics of the epilepsies: genetic twists in the channels and other tales.
Epilepsia 2010;51 Suppl 1():33-6.
2010: Sarah E Heron; Marta Hernandez; Caitlin Edwards; Edward Edkins; Floor E Jansen; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley
Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?
Epilepsia 2010;51(2):293-6.
2010: Sarah E Heron; Ingrid E Scheffer; Xenia Iona; Sameer M Zuberi; Rachael Birch; Jacinta M McMahon; Carla M Bruce; Samuel F Berkovic; John C Mulley
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
Journal of medical genetics 2010;47(2):137-41.
2010: Ingrid E Scheffer; Samuel F Berkovic
Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies.
Brain : a journal of neurology 2010;133(Pt 1):7-8.
2009: Leanne M Dibbens; Saul Mullen; Ingo Helbig; Heather C Mefford; Marta A Bayly; Susannah Bellows; Costin Leu; Holger Trucks; Tanja Obermeier; Michael Wittig; Andre Franke; Hande Caglayan; Zuhal Yapici; Thomas Sander; Evan E Eichler; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Human molecular genetics 2009;18(19):3626-31.
2009: Lynette G Sadleir; Ingrid E Scheffer; Sherry Smith; Mary B Connolly; Kevin Farrell
Automatisms in absence seizures in children with idiopathic generalized epilepsy.
Archives of neurology 2009;66(6):729-34.
2009: Lynette G Sadleir; Ingrid E Scheffer; Sherry Smith; Bendix Carstensen; Kevin Farrell; Mary B Connolly
EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state.
Epilepsia 2009;50(6):1572-8.
2009: Ingrid E Scheffer; Yue-Hua Zhang; Floor E Jansen; Leanne M Dibbens
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Brain & development 2009;31(5):394-400.
2009: Angelique E J Sijben; Pasiri Sithinamsuwan; Ashalata Radhakrishnan; Radwa Badawy; Leanne M Dibbens; Aziz Mazarib; Dorit Lev; Tally Lerman-Sagie; Rachel Straussberg; Samuel F Berkovic; Ingrid E Scheffer
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
Epilepsia 2009;50(4):953-6.
2009: Bronwyn Parry-Fielder; Kevin Collins; John Fisher; Eddie Keir; Vicki Anderson; Rani Jacobs; Ingrid E Scheffer; Terry Nolan
Electroencephalographic abnormalities during sleep in children with developmental speech-language disorders: a case-control study.
Developmental medicine and child neurology 2009;51(3):228-34.
2009: D L Bruno; D Ganesamoorthy; J Schoumans; Agnes Bankier; D Coman; Martin B Delatycki; R J McKinlay Gardner; M Hunter; P A James; Peter Kannu; George McGillivray; N Pachter; H Peters; C Rieubland; Ravi Savarirayan; Ingrid E Scheffer; Leslie J Sheffield; T Tan; Susan M White; A Yeung; Z Bowman; C Ngo; K W Choy; V Cacheux; L Wong; David J Amor; Howard R Slater
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Journal of medical genetics 2009;46(2):123-31.
2009: Saul A Mullen; Ingrid E Scheffer
Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse.
Archives of neurology 2009;66(1):21-6.
2008: Ingrid E Scheffer; Anne T Berg
Classification and clinical features of absence epilepsies: how evidence leads to changing concepts.
Epilepsia 2008;49(12):2140-1.
2008: Ashalatha Radhakrishnan; Pasiri Sithinamsuwan; A Simon Harvey; Danny Flanagan; Gregory Fitt; Sam Berlangieri; Graeme D Jackson; Samuel F Berkovic; Ingrid E Scheffer
Multifocal epilepsy: the role of palliative resection - intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia.
Epileptic disorders : international epilepsy journal with videotape 2008;10(4):362-70.
2008: Lynette G Sadleir; Ingrid E Scheffer; Sherry Smith; Bendix Carstensen; John Carlin; Mary B Connolly; Kevin Farrell
Factors influencing clinical features of absence seizures.
Epilepsia 2008;49(12):2100-7.
2008: Christopher P Derry; Sarah E Heron; Fiona Phillips; Stephen Howell; Jacinta MacMahon; Hilary A Phillips; John S Duncan; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.
Epilepsia 2008;49(12):2125-9.
2008: Isabella Taylor; Samuel F Berkovic; Sara Kivity; Ingrid E Scheffer
Benign occipital epilepsies of childhood: clinical features and genetics.
Brain : a journal of neurology 2008;131(Pt 9):2287-94.
2008: Ingo Helbig; Nicholas A Matigian; Lata Vadlamudi; Kate M Lawrence; Marta A Bayly; Sharon M Bain; Dileepa Diyagama; Ingrid E Scheffer; John C Mulley; Andrew J Holloway; Leanne M Dibbens; Samuel F Berkovic; Nicholas K Hayward
Gene expression analysis in absence epilepsy using a monozygotic twin design.
Epilepsia 2008;49(9):1546-54.
2008: Ingrid E Scheffer; Samantha J Turner; Leanne M Dibbens; Marta A Bayly; Kathryn Friend; Bree Hodgson; Linda Burrows; Marie Shaw; Chen Wei; Reinhard Ullmann; Hans-Hilger Ropers; Pierre Szepetowski; Eric Haan; Aziz Mazarib; Zaid Afawi; Miri Y Neufeld; P Ian Andrews; Geoffrey Wallace; Sara Kivity; Dorit Lev; Tally Lerman-Sagie; Christopher P Derry; Amos D Korczyn; Jozef Gecz; John C Mulley; Samuel F Berkovic
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Brain : a journal of neurology 2008;131(Pt 4):918-27.
2008: Ingo Helbig; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Navigating the channels and beyond: unravelling the genetics of the epilepsies.
Lancet neurology 2008;7(3):231-45.
2007: Sarah E Heron; Houman Khosravani; Diego Varela; Christopher Bladen; Tristiana C Williams; Michelle R Newman; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley; Gerald W Zamponi
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
Annals of neurology 2007;62(6):560-8.
2007: Sarah E Heron; K Cox; Bronwyn E Grinton; Sameer M Zuberi; S Kivity; Z Afawi; Rachel Straussberg; Samuel F Berkovic; Ingrid E Scheffer; John C Mulley
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
Journal of medical genetics 2007;44(12):791-6.
2007: Leanne M Dibbens; Jenny Ekberg; I Taylor; Bree L Hodgson; S-J Conroy; Ingrid L Lensink; Sharad Kumar; M A Zielinski; Louise A Harkin; Grant R Sutherland; David J Adams; Samuel F Berkovic; Ingrid E Scheffer; John C Mulley; Philip Poronnik
NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity.
Genes, brain, and behavior 2007;6(8):750-5.
2007: Isabella Taylor; Bree Hodgson; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic; Leanne M Dibbens
Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?
Epilepsia 2007;48(9):1807-9.
2007: Ruwei Xu; Evan A Thomas; Elena V Gazina; K L Richards; M Quick; Robyn H Wallace; Louise A Harkin; Sarah E Heron; Samuel F Berkovic; Ingrid E Scheffer; John C Mulley; Steven Petrou
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.
Neuroscience 2007;148(1):164-74.
2007: Ruwei Xu; Evan A Thomas; Misty Jenkins; Elena V Gazina; Cindy Chiu; Sarah E Heron; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic; Steven Petrou
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
Molecular and cellular neurosciences 2007;35(2):292-301.
2007: Eric Herlenius; Sarah E Heron; Bronwyn E Grinton; Deborah Keay; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
Epilepsia 2007;48(6):1138-42.
2007: Sarah E Heron; Louisa Sanchez; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley
Association studies and functional validation or functional validation alone?
Epilepsy research 2007;74(2-3):237-8.
2007: Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; Leanne M Dibbens; John C Mulley
Channelopathies in idiopathic epilepsy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2007;4(2):295-304.
2007: Natasha J Brown; Samuel F Berkovic; Ingrid E Scheffer
Vaccination, seizures and 'vaccine damage'.
Current opinion in neurology 2007;20(2):181-7.
2007: Louise A Harkin; Jacinta M McMahon; Xenia Iona; Leanne M Dibbens; James T Pelekanos; Sameer M Zuberi; Lynette G Sadleir; Eva Andermann; Deepak Gill; Kevin Farrell; Mary Connolly; Thorsten Stanley; Michael Harbord; Frederick Andermann; Jing Wang; Sat Dev Batish; Jeffrey G Jones; William K Seltzer; Alison Gardner; Grant Sutherland; Samuel F Berkovic; John C Mulley; Ingrid E Scheffer
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Brain : a journal of neurology 2007;130(Pt 3):843-52.
2007: Lynette G Sadleir; Ingrid E Scheffer
Febrile seizures.
BMJ (Clinical research ed.) 2007;334(7588):307-11.
2007: Ingrid E Scheffer; Louise A Harkin; Bronwyn E Grinton; Leanne M Dibbens; Samantha J Turner; Marta A Zielinski; Ruwei Xu; Graeme Jackson; Judith Adams; Mary Connellan; Steven Petrou; R Mark Wellard; Regula S Briellmann; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
Brain : a journal of neurology 2007;130(Pt 1):100-9.
2006: F E Jansen; Lynette G Sadleir; Louise A Harkin; Lata Vadlamudi; Jacinta M McMahon; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.
Neurology 2006;67(12):2224-6.
2006: Bronwyn E Grinton; Ingrid E Scheffer; Samuel F Berkovic
Invited comments on the Shostak and Ottman review.
Epilepsia 2006;47(10):1751-2; author reply 1755-6.
2006: John C Mulley; P Nelson; S Guerrero; Leanne M Dibbens; Xenia Iona; Jacinta M McMahon; Louise A Harkin; J Schouten; S Yu; Samuel F Berkovic; Ingrid E Scheffer
A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.
Neurology 2006;67(6):1094-5.
2006: Lynette G Sadleir; Kevin Farrell; S Smith; Mary B Connolly; Ingrid E Scheffer
Electroclinical features of absence seizures in childhood absence epilepsy.
Neurology 2006;67(3):413-8.
2006: Samuel F Berkovic; John C Mulley; Ingrid E Scheffer; Steven Petrou
Human epilepsies: interaction of genetic and acquired factors.
Trends in neurosciences 2006;29(7):391-7.
2006: Samuel F Berkovic; Louise A Harkin; Jacinta M McMahon; James T Pelekanos; Sameer M Zuberi; Elaine Wirrell; Deepak S Gill; Xenia Iona; John C Mulley; Ingrid E Scheffer
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
Lancet neurology 2006;5(6):488-92.
2006: Christopher Paul Derry; Margot Davey; Murray Johns; Katie Kron; Deborah Glencross; Carla Marini; Ingrid E Scheffer; Samuel F Berkovic
Distinguishing sleep disorders from seizures: diagnosing bumps in the night.
Archives of neurology 2006;63(5):705-9.
2006: Nigel C K Tan; John C Mulley; Ingrid E Scheffer
Genetic dissection of the common epilepsies.
Current opinion in neurology 2006;19(2):157-63.
2006: Lata Vadlamudi; Marianne Juel Kjeldsen; Linda A Corey; Marit H Solaas; Mogens Laue Friis; John M Pellock; Karl O Nakken; Roger L Milne; Ingrid E Scheffer; A Simon Harvey; John L Hopper; Samuel F Berkovic
Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration.
Epilepsia 2006;47(3):550-5.
2005: Jayasri Srinivasan; Katherine A Wallace; Ingrid E Scheffer
Febrile seizures.
Australian family physician 2005;34(12):1021-5.
2005: Glenn P Ollenberger; Amanda J Byrne; Salvatore U Berlangieri; Christopher C Rowe; Kunthi Pathmaraj; David C Reutens; Samuel F Berkovic; Ingrid E Scheffer; Andrew M Scott
Assessment of the role of FDG PET in the diagnosis and management of children with refractory epilepsy.
European journal of nuclear medicine and molecular imaging 2005;32(11):1311-6.
2005: John C Mulley; Ingrid E Scheffer; Louise A Harkin; Samuel F Berkovic; Leanne M Dibbens
Susceptibility genes for complex epilepsy.
Human molecular genetics 2005;14 Spec No. 2():R243-9.
2005: Melodie R Winawer; Carla Marini; Bronwyn E Grinton; daniel rabinowitz; Samuel F Berkovic; Ingrid E Scheffer; Ruth Ottman
Familial clustering of seizure types within the idiopathic generalized epilepsies.
Neurology 2005;65(4):523-8.
2005: John C Mulley; Ingrid E Scheffer; Steven Petrou; Leanne M Dibbens; Samuel F Berkovic; Louise A Harkin
SCN1A mutations and epilepsy.
Human mutation 2005;25(6):535-42.
2005: Nigel C K Tan; Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley
Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?
Epilepsia 2005;46(5):778-80.
2005: Angelo Labate; Regula S Briellmann; Ingrid E Scheffer; Anthony B Waites; Renate M Kalnins; Graeme D Jackson
Amygdala dysplasia with temporal lobe epilepsy and obsessive-compulsive disorder: an fMRI/EEG study.
Neurology 2005;64(7):1309-10.
2005: Ingrid E Scheffer; Louise A Harkin; Leanne M Dibbens; John C Mulley; Samuel F Berkovic
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).
Epilepsia 2005;46 Suppl 10():41-7.
2004: Nigel C K Tan; Sarah E Heron; Ingrid E Scheffer; James T Pelekanos; Jacinta M McMahon; D F Vears; John C Mulley; Samuel F Berkovic
Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy.
Neurology 2004;63(6):1090-2.
2004: Samuel F Berkovic; José M Serratosa; Hilary A Phillips; Lan Xiong; Eva Andermann; Fernando Díaz-Otero; Pilar Gómez-Garre; Mercedes Martín; Yolanda Fernández-Bullido; Frederick Andermann; Iscia Lopes-Cendes; Francois Dubeau; Richard Desbiens; Ingrid E Scheffer; Robyn H Wallace; John C Mulley; Massimo Pandolfo
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
Epilepsia 2004;45(9):1054-60.
2004: Isabella Taylor; Carla Marini; Michael R Johnson; Samantha Turner; Samuel F Berkovic; Ingrid E Scheffer
Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?
Brain : a journal of neurology 2004;127(Pt 8):1878-86.
2004: Lata Vadlamudi; A Simon Harvey; Mary M Connellan; Roger L Milne; John L Hopper; Ingrid E Scheffer; Samuel F Berkovic
Is benign rolandic epilepsy genetically determined?
Annals of neurology 2004;56(1):129-32.
2004: Leanne M Dibbens; Hua-Jun Feng; Michaella C Richards; Louise A Harkin; Bree L Hodgson; Darren Scott; Misty Jenkins; Steven Petrou; Grant R Sutherland; Ingrid E Scheffer; Samuel F Berkovic; Robert L Macdonald; John C Mulley
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
Human molecular genetics 2004;13(13):1315-9.
2004: R Mark Wellard; Regula S Briellmann; J C Wilson; Renate M Kalnins; Dianne P Anderson; Paolo Federico; Gavin C A Fabinyi; Ingrid E Scheffer; A Simon Harvey; Graeme D Jackson
Longitudinal study of MRS metabolites in Rasmussen encephalitis.
Brain : a journal of neurology 2004;127(Pt 6):1302-12.
2004: Carla Marini; Ingrid E Scheffer; Kathryn M Crossland; Bronwyn E Grinton; Fiona L Phillips; Jacinta M McMahon; Samantha J Turner; Joanne T Dean; Sara Kivity; Aziz Mazarib; Miri Y Neufeld; Amos D Korczyn; Louise A Harkin; Leanne M Dibbens; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
Epilepsia 2004;45(5):467-78.
2004: Samuel F Berkovic; P Izzillo; Jacinta M McMahon; Louise A Harkin; Anne M McIntosh; Hilary A Phillips; Regula S Briellmann; Robyn H Wallace; Aziz Mazarib; Miri Y Neufeld; Amos D Korczyn; Ingrid E Scheffer; John C Mulley
LGI1 mutations in temporal lobe epilepsies.
Neurology 2004;62(7):1115-9.
2004: Sarah E Heron; Hilary A Phillips; John C Mulley; Aziz Mazarib; Miri Y Neufeld; Samuel F Berkovic; Ingrid E Scheffer
Genetic variation of CACNA1H in idiopathic generalized epilepsy.
Annals of neurology 2004;55(4):595-6.
2004: Samuel F Berkovic; Sarah E Heron; Lucio Giordano; Carla Marini; Renzo Guerrini; Robert E Kaplan; Antonio Gambardella; Ortrud K Steinlein; Bronwyn E Grinton; Joanne T Dean; Laura Bordo; Bree L Hodgson; Toshiyuki Yamamoto; John C Mulley; Federico Zara; Ingrid E Scheffer
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Annals of neurology 2004;55(4):550-7.
2004: Michaella C Richards; Sarah E Heron; Hayley E Spendlove; Ingrid E Scheffer; Bronwyn E Grinton; Samuel F Berkovic; John C Mulley; A Davy
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
Journal of medical genetics 2004;41(3):e35.
2003: Robyn H Wallace; Bree L Hodgson; Bronwyn E Grinton; R M Gardiner; R Robinson; V Rodriguez-Casero; Lynette G Sadleir; J Morgan; Louise A Harkin; Leanne M Dibbens; T Yamamoto; Eva Andermann; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
Neurology 2003;61(6):765-9.
2003: Ingrid E Scheffer; Samuel F Berkovic
The genetics of human epilepsy.
Trends in pharmacological sciences 2003;24(8):428-33.
2003: Michael R Johnson; Roger L Milne; Yvonne Torn-Broers; John L Hopper; Ingrid E Scheffer; Samuel F Berkovic
A twin study of genetic influences on epilepsy outcome.
Twin research : the official journal of the International Society for Twin Studies 2003;6(2):140-6.
2003: Ailsa McLellan; Hilary A Phillips; Christopher Rittey; Martin Kirkpatrick; John C Mulley; David R Goudie; John B P Stephenson; John Tolmie; Ingrid E Scheffer; Samuel F Berkovic; Sameer M Zuberi
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.
Epilepsia 2003;44(4):613-7.
2003: John C Mulley; Ingrid E Scheffer; Steven Petrou; Samuel F Berkovic
Channelopathies as a genetic cause of epilepsy.
Current opinion in neurology 2003;16(2):171-6.
2003: Isabella Taylor; Ingrid E Scheffer; Samuel F Berkovic
Occipital epilepsies: identification of specific and newly recognized syndromes.
Brain : a journal of neurology 2003;126(Pt 4):753-69.
2003: Carla Marini; Louise A Harkin; Robyn H Wallace; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.
Brain : a journal of neurology 2003;126(Pt 1):230-40.
2002: L Anne Mitchell; Paul Q Thomas; Margaret R Zacharin; Ingrid E Scheffer
Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?
AJNR. American journal of neuroradiology 2002;23(9):1475-81.
2002: Sarah E Heron; Kathryn M Crossland; Eva Andermann; Hilary A Phillips; Allison J Hall; Andrew F Bleasel; Michael Shevell; Suha Mercho; Marie-Hélène Seni; Marie-Christine Guiot; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Sodium-channel defects in benign familial neonatal-infantile seizures.
Lancet 2002;360(9336):851-2.
2002: Ingrid E Scheffer; Robyn H Wallace; Fiona L Phillips; P Hewson; K Reardon; G Parasivam; P Stromme; Samuel F Berkovic; Jozef Gecz; John C Mulley
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
Neurology 2002;59(3):348-56.
2002: Petter Strømme; Marie Mangelsdorf; Ingrid E Scheffer; Jozef Gécz
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
Brain & development 2002;24(5):266-8.
2002: Robyn H Wallace; Ingrid E Scheffer; G Parasivam; S Barnett; G B Wallace; Grant R Sutherland; Samuel F Berkovic; John C Mulley
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
Neurology 2002;58(9):1426-9.
2002: Petter Strømme; Marie Mangelsdorf; Marie A Shaw; Karen M Lower; Suzanne M E Lewis; Helene Bruyere; Viggo Lütcherath; Agi K Gedeon; Robyn H Wallace; Ingrid E Scheffer; Gillian Turner; Michael Partington; Suzanna G M Frints; Jean-Pierre Fryns; Grant R Sutherland; John C Mulley; Jozef Gécz
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Nature genetics 2002;30(4):441-5.
2002: Rita Singh; R J McKinlay Gardner; Kathryn M Crossland; Ingrid E Scheffer; Samuel F Berkovic
Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.
Epilepsia 2002;43(2):127-40.
2002: Louise A Harkin; David N Bowser; Leanne M Dibbens; Rita Singh; Fiona L Phillips; Robyn H Wallace; Michaella C Richards; David A Williams; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer; Steven Petrou
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.
American journal of human genetics 2002;70(2):530-6.
2001: Ingrid E Scheffer; R Wallace; J C Mulley; Samuel F Berkovic
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome).
Brain & development 2001;23(7):732-5.
2001: Rita Singh; Eva Andermann; W P Whitehouse; A Simon Harvey; D L Keene; Marie-Hélène Seni; Kathryn M Crossland; Frederick Andermann; Samuel F Berkovic; Ingrid E Scheffer
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
Epilepsia 2001;42(7):837-44.
2001: Robyn H Wallace; Carla Marini; Steven Petrou; Louise A Harkin; David N Bowser; Rekha G Panchal; David A Williams; Grant R Sutherland; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
Nature genetics 2001;28(1):49-52.
2001: R J McKinlay Gardner; Lee Coleman; L Anne Mitchell; L J Smith; A Simon Harvey; Ingrid E Scheffer; Elsdon Storey; M J Nowotny; R A Sloane; Lionel Lubitz
Near-total absence of the cerebellum.
Neuropediatrics 2001;32(2):62-8.
2001: Robyn H Wallace; Ingrid E Scheffer; S Barnett; M Richards; Leanne M Dibbens; R R Desai; Tally Lerman-Sagie; D Lev; Aziz Mazarib; N Brand; Bruria Ben-Zeev; Igor Goikhman; Rita Singh; Gabriel Kremmidiotis; Alison Gardner; Grant R Sutherland; A L George; John C Mulley; Samuel F Berkovic
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
American journal of human genetics 2001;68(4):859-65.
2001: Samuel F Berkovic; Ingrid E Scheffer
Genetics of the epilepsies.
Epilepsia 2001;42 Suppl 5():16-23.
2001: Hilary A Phillips; I Favre; Martin Kirkpatrick; Sameer M Zuberi; David R Goudie; Sarah E Heron; Ingrid E Scheffer; Grant R Sutherland; Samuel F Berkovic; D Bertrand; John C Mulley
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
American journal of human genetics 2001;68(1):225-31.
2000: Hilary A Phillips; Carla Marini; Ingrid E Scheffer; Grant R Sutherland; John C Mulley; Samuel F Berkovic
A de novo mutation in sporadic nocturnal frontal lobe epilepsy.
Annals of neurology 2000;48(2):264-7.
2000: Ingrid E Scheffer; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Locus for febrile seizures.
Annals of neurology 2000;47(6):840-1.
1999: L Xiong; M Labuda; D S Li; Thomas J Hudson; R Desbiens; G Patry; S Verret; P Langevin; Suha Mercho; Marie-Hélène Seni; Ingrid E Scheffer; François Dubeau; Samuel F Berkovic; Frederick Andermann; Eva Andermann; Massimo Pandolfo
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.
American journal of human genetics 1999;65(6):1698-710.
1999: Richard A L Macdonell; Graeme D Jackson; Josie M Curatolo; David F Abbott; Samuel F Berkovic; Leeanne M Carey; A Syngeniotin; Gavin C A Fabinyi; Ingrid E Scheffer
Motor cortex localization using functional MRI and transcranial magnetic stimulation.
Neurology 1999;53(7):1462-7.
1999: Rita Singh; Richard A L Macdonell; Ingrid E Scheffer; Kathryn M Crossland; Samuel F Berkovic
Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms.
Epileptic disorders : international epilepsy journal with videotape 1999;1(2):93-9.
1999: Samuel F Berkovic; Ingrid E Scheffer
Genetics of the epilepsies.
Current opinion in neurology 1999;12(2):177-82.
1999: Rita Singh; Ingrid E Scheffer; Kathryn M Crossland; Samuel F Berkovic
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.
Annals of neurology 1999;45(1):75-81.
1998: Ingrid E Scheffer; Hilary A Phillips; C E O'Brien; Michael M Saling; Jacquie A Wrennall; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2.
Annals of neurology 1998;44(6):890-9.
1998: Hilary A Phillips; Ingrid E Scheffer; Kathryn M Crossland; K P Bhatia; D R Fish; CD Marsden; S J Howell; John B P Stephenson; John Tolmie; G Plazzi; Orvar Eeg-Olofsson; Rita Singh; Iscia Lopes-Cendes; Eva Andermann; Frederick Andermann; Samuel F Berkovic; John C Mulley
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.
American journal of human genetics 1998;63(4):1108-16.
1998: Robyn H Wallace; D W Wang; Rita Singh; Ingrid E Scheffer; A L George; Hilary A Phillips; Kathrin Saar; A Reis; E W Johnson; Grant R Sutherland; Samuel F Berkovic; John C Mulley
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
Nature genetics 1998;19(4):366-70.
1998: Samuel F Berkovic; Ingrid E Scheffer
Febrile seizures: genetics and relationship to other epilepsy syndromes.
Current opinion in neurology 1998;11(2):129-34.
1997: M Hayman; Ingrid E Scheffer; Y Chinvarun; Salvatore U Berlangieri; Samuel F Berkovic
Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation.
Neurology 1997;49(4):969-75.
1997: Samuel F Berkovic; Ingrid E Scheffer
Genetics of human partial epilepsy.
Current opinion in neurology 1997;10(2):110-4.
1997: Ingrid E Scheffer; Samuel F Berkovic
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
Brain : a journal of neurology 1997;120 ( Pt 3)():479-90.
1997: Samuel F Berkovic; Ingrid E Scheffer
Epilepsies with single gene inheritance.
Brain & development 1997;19(1):13-8.
1995: Iscia Lopes-Cendes; Hilary A Phillips; Ingrid E Scheffer; John C Mulley; R Desbiens; Eva Andermann; F Cendes; S Verret; Frederick Andermann; S F Berkovic
Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus.
Epilepsy research 1995;22(3):227-33.
1995: Ingrid E Scheffer; L Jones; M Pozzebon; R A Howell; M M Saling; S F Berkovic
Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation.
Annals of neurology 1995;38(4):633-42.
1995: Ortrud K Steinlein; John C Mulley; Peter Propping; Robyn H Wallace; Hilary A Phillips; G R Sutherland; Ingrid E Scheffer; S F Berkovic
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
Nature genetics 1995;11(2):201-3.
1995: Hilary A Phillips; Ingrid E Scheffer; S F Berkovic; Georgina Hollway; G R Sutherland; John C Mulley
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2.
Nature genetics 1995;10(1):117-8.
1995: Ingrid E Scheffer; K P Bhatia; Iscia Lopes-Cendes; D R Fish; CD Marsden; Eva Andermann; Frederick Andermann; R Desbiens; D Keene; F Cendes
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder.
Brain : a journal of neurology 1995;118 ( Pt 1)():61-73.
1994: S F Berkovic; Marina L Kennerson; R A Howell; Ingrid E Scheffer; P A Hwang; G A Nicholson
Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.
Archives of neurology 1994;51(11):1125-8.
1994: Ingrid E Scheffer; K P Bhatia; Iscia Lopes-Cendes; D R Fish; CD Marsden; Frederick Andermann; Eva Andermann; R Desbiens; F Cendes; J I Manson
Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.
Lancet 1994;343(8896):515-7.