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Anne De Saint-Martin

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Gaetan Lesca; Jacques Motte; Gabrielle Rudolf; Damien Sanlaville; Maria-Paola Valenti; Alexis Arzimanoglou; Clotilde Boulay; Nadia Boutry-Kryza; Julitta De Bellescize; Anne De Saint-Martin; P Edery; Pierre Genton; Edouard Hirsch; Pascale Kéo-Kosal; Audrey Labalme; Pierre Szepetowski
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
Caroline Seegmüller; Maria-Paula Valenti-Hirsch; Claire Mayor Dubois; Anne De Saint-Martin; Thierry Deonna; Edouard Hirsch; Marie-Noëlle Metz-Lutz; Eliane Roulet-Perez
Long-term outcome after cognitive and behavioral regression in nonlesional epilepsy with continuous spike-waves during slow-wave sleep.
Mireille Cossée; Laurence Faivre; Christophe Philippe; Heifa Hichri; Anne De Saint-Martin; Vincent Laugel; Nadia Bahi-Buisson; Jean-François Lemaitre; Bruno Leheup; Bruno Delobel; Bénédicte Demeer; Karine Poirier; Valérie Biancalana; Jean-Michel Pinoit; Sophie Julia; Jamel Chelly; Didier Devys; Jean-Louis Mandel
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

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All Publications

2012: Gaetan Lesca; Jacques Motte; Gabrielle Rudolf; Damien Sanlaville; Maria-Paola Valenti; Alexis Arzimanoglou; Clotilde Boulay; Nadia Boutry-Kryza; Julitta De Bellescize; Anne De Saint-Martin; P Edery; Pierre Genton; Edouard Hirsch; Pascale Kéo-Kosal; Audrey Labalme; Pierre Szepetowski
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
Epilepsia 2012;53(9):1526-38.
2012: Caroline Seegmüller; Maria-Paula Valenti-Hirsch; Claire Mayor Dubois; Anne De Saint-Martin; Thierry Deonna; Edouard Hirsch; Marie-Noëlle Metz-Lutz; Eliane Roulet-Perez
Long-term outcome after cognitive and behavioral regression in nonlesional epilepsy with continuous spike-waves during slow-wave sleep.
Epilepsia 2012;53(6):1067-76.
2011: Mireille Cossée; Laurence Faivre; Christophe Philippe; Heifa Hichri; Anne De Saint-Martin; Vincent Laugel; Nadia Bahi-Buisson; Jean-François Lemaitre; Bruno Leheup; Bruno Delobel; Bénédicte Demeer; Karine Poirier; Valérie Biancalana; Jean-Michel Pinoit; Sophie Julia; Jamel Chelly; Didier Devys; Jean-Louis Mandel
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
American journal of medical genetics. Part A 2011;155A(1):98-105.
2008: Nadège Carelle-Calmels; Françoise Girard-Lemaire; Eric Guérin; Eric Bieth; Gabrielle Rudolf; Valérie Biancalana; Hélène Pecheur; Houria Demil; Thierry Schneider; Anne De Saint-Martin; Olivier Caron; Michèle Legrain; Valérie Gaston; Elisabeth Flori
Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.
European journal of medical genetics 2008;51(6):547-57.
2008: Vincent Laugel; Mireille Cossée; Jacqueline Matis; Anne De Saint-Martin; Andoni Echaniz-Laguna; Jean-Louis Mandel; Dominique Astruc; Michel Fischbach; Jean Messer
Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates.
European journal of pediatrics 2008;167(5):517-23.
2008: Xavier De Tiège; Noémie Ligot; Serge Goldman; Nathalie Poznanski; Anne De Saint-Martin; Patrick Van Bogaert
Metabolic evidence for remote inhibition in epilepsies with continuous spike-waves during sleep.
NeuroImage 2008;40(2):802-10.
2007: Judith Kröll-Seger; Anna Kaminska; Marie-Laure Moutard; Anne De Saint-Martin; Agnés Guët; Olivier Dulac; Catherine Chiron
Severe relapse of epilepsy after vigabatrin withdrawal: for how long should we treat symptomatic infantile spasms?
Epilepsia 2007;48(3):612-3.
2007: Vincent Laugel; Valérie This-Bernd; Valérie Cormier-Daire; Claude Speeg-Schatz; Anne De Saint-Martin; Michel Fischbach
Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.
Pediatric neurology 2007;36(1):54-7.
2006: Edouard Hirsch; Maria Paola Valenti; Gabrielle Rudolf; Caroline Seegmuller; Anne De Saint-Martin; Pierre Maquet; Norma Wioland; Marie-Noëlle Metz-Lutz; Christian Marescaux; Alexis Arzimanoglou
Landau-Kleffner syndrome is not an eponymic badge of ignorance.
Epilepsy research 2006;70 Suppl 1():S239-47.
2006: Agathe Roubertie; Stéphane Thobois; Anne De Saint-Martin; Thierry Billette de Villemeur; Diane Doummar
[Movement disorders in children].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(6):798-800.
2006: Patrice Roll; Gabrielle Rudolf; Sandrine Pereira; Barbara Royer-Zemmour; Ingrid E Scheffer; Annick Massacrier; Maria-Paola Valenti; Nathalie Roeckel-Trevisiol; Sarah Jamali; Christophe Beclin; Caroline Seegmuller; Marie-Noëlle Metz-Lutz; Arnaud Lemainque; Marc Delepine; Christophe Caloustian; Anne De Saint-Martin; Nadine Bruneau; Danièle Depétris; Marie-Geneviève Mattéi; Elisabeth Flori; Andrée Robaglia-Schlupp; Nicolas Lévy; Bernd A Neubauer; Rivka Ravid; Christian Marescaux; Samuel F Berkovic; Edouard Hirsch; Mark Lathrop; Pierre Cau; Pierre Szepetowski
SRPX2 mutations in disorders of language cortex and cognition.
Human molecular genetics 2006;15(7):1195-207.
2006: Florence Pinton; Béatrice Ducot; Jacques Motte; Anne-Sophie Arbuès; Catherine Barondiot; Marie-Anne Barthez; Yves Chaix; Renée Cheminal; Marie-Odile Livet; Marie-José Penniello; Sylviane Peudenier; Anne De Saint-Martin; Catherine Billard
Cognitive functions in children with benign childhood epilepsy with centrotemporal spikes (BECTS).
Epileptic disorders : international epilepsy journal with videotape 2006;8(1):11-23.
2006: Serge Rivera; Frédéric Villega; Anne De Saint-Martin; Jacqueline Matis; Benoît Escande; Denys Chaigne; Dominique Astruc
Congenital hyperekplexia: five sporadic cases.
European journal of pediatrics 2006;165(2):104-7.
2005: Agathe Roubertie; Hassan Boukhaddaoui; Victor Sieso; Anne De Saint-Martin; Arielle Lellouch-Tubiana; Edouard Hirsch; Bernard Echenne; Jean Valmier
Antiglial cell autoantibodies and childhood epilepsy: a case report.
Epilepsia 2005;46(8):1308-12.
2004: Anne De Saint-Martin; Edouard Hirsch
[Refractory partial epilepsy: what are the neuropediatrician's criteria for drug resistance?].
Revue neurologique 2004;160 Spec No 1():5S43-7.
2004: Clotilde Lagier-Tourenne; Emanuelle Ginglinger; Yves Alembik; Anne De Saint-Martin; MO Peter; P Dulucq; Philippe Jonveaux; Eric Jeandidier
Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12.
American journal of medical genetics. Part A 2004;125A(1):77-85.
2003: Yann Mikaeloff; Anne De Saint-Martin; Josette Mancini; Sylviane Peudenier; Jean-Michel Pedespan; Louis Vallée; Jacques Motte; Marie Bourgeois; Alexis Arzimanoglou; Olivier Dulac; Catherine Chiron
Topiramate: efficacy and tolerability in children according to epilepsy syndromes.
Epilepsy research 2003;53(3):225-32.
2002: Stéphane Kremer; Anne De Saint-Martin; Lorella Minotti; Sylvie Grand; Alim-Louis Benabid; Basile Pasquier; Philippe Kahane
[Focal cortical dysplasia possibly related to a probable prenatal ischemic injury].
Journal of neuroradiology. Journal de neuroradiologie 2002;29(3):200-3.
2002: Alim-Louis Benabid; Lorella Minotti; Adnan Koudsié; Anne De Saint-Martin; Edouard Hirsch
Antiepileptic effect of high-frequency stimulation of the subthalamic nucleus (corpus luysi) in a case of medically intractable epilepsy caused by focal dysplasia: a 30-month follow-up: technical case report.
Neurosurgery 2002;50(6):1385-91; discussion 1391-2.
2002: David Minn; Daniel Christmann; Anne De Saint-Martin; Yves Alembik; Mylène Eliot; Geneviève Mack; Michel Fischbach; Jacques Flament; Francis Veillon; Hélène Dollfus
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.
American journal of medical genetics 2002;109(3):211-7.
2002: Claude Stoll; Yves Alembik; E Grosshans; Anne De Saint-Martin
An unusual human mosaic for skin pigmentation.
Genetic counseling (Geneva, Switzerland) 2002;13(3):281-7.
2002: Claude Stoll; Anne De Saint-Martin; L Donato; Yves Alembik; Paul Sauvage; Jean Messer
Gli 3 mutation in Pallister-Hall syndrome.
Genetic counseling (Geneva, Switzerland) 2002;13(1):69.
2001: R Massa; Anne De Saint-Martin; R Carcangiu; Gabrielle Rudolf; Caroline Seegmuller; C Kleitz; Marie-Noëlle Metz-Lutz; Edouard Hirsch; Christian Marescaux
EEG criteria predictive of complicated evolution in idiopathic rolandic epilepsy.
Neurology 2001;57(6):1071-9.
2001: Marie-Noëlle Metz-Lutz; Anne De Saint-Martin
Pathophysiological accounts of language impairments in Landau-Kleffner syndrome.
Epileptic disorders : international epilepsy journal with videotape 2001;3(3):163-4.
2001: J Friberg; Philippe Choquet; Anne De Saint-Martin; Daniel Christmann; O Joanny-Flinnois; C Sainte-Rose; E Hirsch; Michel Fischbach; Izzie J Namer; André Constantinesco
Tc-99m ethyl cysteinate dimer brain perfusion spect in presurgical evaluation for intractable partial epilepsy in a young infant.
Clinical nuclear medicine 2001;26(6):557-8.
2001: Anne De Saint-Martin; F Picard; E Hirsch; Michel Fischbach
[Ionic channels and epilepsy].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8 Suppl 2():296s-297s.
2001: Claude Stoll; Anne De Saint-Martin; L Donato; K Alembik; Paul Sauvage; Jean Messer
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism.
Genetic counseling (Geneva, Switzerland) 2001;12(3):231-5.
2001: Claude Speeg-Schatz; Anne De Saint-Martin; Daniel Christmann
Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia.
Binocular vision & strabismus quarterly 2001;16(3):187-90.
2001: Marie-Noëlle Metz-Lutz; Pierre Maquet; Anne De Saint-Martin; Gabrielle Rudolf; Norma Wioland; Edouard Hirsch; Christian Marescaux
Pathophysiological aspects of Landau-Kleffner syndrome: from the active epileptic phase to recovery.
International review of neurobiology 2001;45():505-26.
2000: Anne De Saint-Martin; R Massa; Marie-Noëlle Metz-Lutz; Edouard Hirsch; Christian Marescaux
Benign childhood epilepsy with centrotemporal spikes: is it always benign?
Neurology 2000;55(8):1241-2.
2000: R Massa; Anne De Saint-Martin; Edouard Hirsch; Christian Marescaux; Jacques Motte; Caroline Seegmuller; C Kleitz; Marie-Noëlle Metz-Lutz
Landau-Kleffner syndrome: sleep EEG characteristics at onset.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2000;111 Suppl 2():S87-93.
2000: Pierre Maquet; Marie-Noëlle Metz-Lutz; Anne De Saint-Martin; Christian Marescaux; E Hirsch
Isotope tracer-techniques in rolandic epilepsy and its variants.
Epileptic disorders : international epilepsy journal with videotape 2000;2 Suppl 1():S55-7.
2000: Edouard Hirsch; Anne De Saint-Martin; Alexis Arzimanoglou
New insights into the clinical management of partial epilepsies.
Epilepsia 2000;41 Suppl 5():S13-17.
2000: A Echaniz-Laguna; Anne De Saint-Martin; A L Lafontaine; E Tasch; P Thomas; E Hirsh; C Marescaux; F Andermann
Bilateral focal polymicrogyria in Ehlers-Danlos syndrome.
Archives of neurology 2000;57(1):123-7.
1999: Marie-Noëlle Metz-Lutz; Anne De Saint-Martin; S Monpiou; R Massa; Edouard Hirsch; Christian Marescaux
Early dissociation of verbal and nonverbal gestural ability in an epileptic deaf child.
Annals of neurology 1999;46(6):929-32.
1999: Marie-Noëlle Metz-Lutz; C Kleitz; Anne De Saint-Martin; R Massa; Edouard Hirsch; Christian Marescaux
Cognitive development in benign focal epilepsies of childhood.
Developmental neuroscience 1999;21(3-5):182-90.
1999: C A Gericke; F Picard; Anne De Saint-Martin; S Strumia; Christian Marescaux; Edouard Hirsch
Efficacy of lamotrigine in idiopathic generalized epilepsy syndromes: a video-EEG-controlled, open study.
Epileptic disorders : international epilepsy journal with videotape 1999;1(3):159-65.
1999: Edouard Hirsch; Anne De Saint-Martin; Christian Marescaux
[Benign familial neonatal convulsions: a model of idiopathic epilepsy].
Revue neurologique 1999;155(6-7):463-7.
1999: Anne De Saint-Martin; C Petiau; R Massa; Pierre Maquet; Christian Marescaux; Edouard Hirsch; Marie-Noëlle Metz-Lutz
Idiopathic rolandic epilepsy with "interictal" facial myoclonia and oromotor deficit: a longitudinal EEG and PET study.
Epilepsia 1999;40(5):614-20.
1999: Yves Alembik; Daniel Christmann; Anne De Saint-Martin; M Eliot; Hélène Dollfus; F Pauly; Claude Stoll
Schinzel-Giedion syndrome with severe deafness and neurodegenerative process.
Annales de génétique 1999;42(4):225-30.
1997: Anne De Saint-Martin; J Terzic; Daniel Christmann; M C Knab; MO Peter; Michel Fischbach
[Superior sagittal sinus thrombosis and nephrotic syndrome: favorable outcome with low molecular weight heparin].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1997;4(9):849-52.
1997: Anne De Saint-Martin; N Badinand; F Picard; Michel Fischbach; M J Challamel; Christian Marescaux; Edouard Hirsch
[Diurnal and nocturnal paroxysmal dyskinesia in young children: a new entity?].
Revue neurologique 1997;153(4):262-7.
1996: F Picard; Anne De Saint-Martin; E Salmon; Edouard Hirsch; Christian Marescaux
Postencephalitic stereotyped involuntary movements responsive to L-Dopa.
Movement disorders : official journal of the Movement Disorder Society 1996;11(5):567-70.
1993: Claude Stoll; Yves Alembik; J P Steib; Anne De Saint-Martin
Twelve cases with hemihypertrophy: etiology and follow up.
Genetic counseling (Geneva, Switzerland) 1993;4(2):119-26.