I. Gourfinkel‐An

发表

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

C. Adam, S. Dupont, C. Depienne, 2010, Journal of Medical Genetics.

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

M. Baulac, M. Ruberg, C. Depienne, 2006, Human mutation.

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females

F. Rivier, C. Depienne, P. Berquin, 2011, Human mutation.

STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients

C. Depienne, D. Lacombe, C. Chiron, 2011, Epilepsia.

A review of the natural history of Sturge–Weber syndrome through adulthood

V. Frazzini, P. Pichit, Sophie Dupont, 2022, Journal of Neurology.

A novel locus for generalized epilepsy with febrile seizures plus in French families.

M. Baulac, C. Depienne, O. Dulac, 2008, Archives of neurology.

Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene

M. Baulac, C. Duyckaerts, A. Brice, 2007, Neurology.

Genes in infantile epileptic encephalopathies

C. Depienne, S. Baulac, E. Leguern, 2010 .

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS Genetics.

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS genetics.

Epilepsy and inborn errors of metabolism in adults: A diagnostic approach

M. Baulac, V. Navarro, F. Sedel, 2007, Journal of Inherited Metabolic Disease.

A review of the natural history of Sturge–Weber syndrome through adulthood

V. Frazzini, P. Pichit, Sophie Dupont, 2022, Journal of Neurology.

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

M. Baulac, C. Depienne, S. Baulac, 2007, Archives of neurology.

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients.

M. Vidailhet, A. Dürr, A. Brice, 2007, Archives of neurology.

Epilepsy in Simplex Autism Pedigrees is Much Lower Than the Rate in Multiplex Autism Pedigrees

C. Laurent, D. Cohen, S. Tordjman, 2013, Biological Psychiatry.

N3 sleep with rapid eye movements in a PCDH19 mutation: a new dissociate state between N3 and REM sleep.

I. Arnulf, I. Gourfinkel‐An, Maïlys Rupin-Mas, 2020, Sleep medicine.

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

H. Lerche, G. Teodorescu, J. Poncer, 2009, Human Mutation.

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Michel Baulac, Stéphanie Baulac, Roberto Bruzzone, 2001, Nature Genetics.

Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis

M. Baulac, L. Mottron, D. Cohen, 2008, Biological Psychiatry.

Genetics of inherited human epilepsies

M. Baulac, A. Brice, S. Baulac, 2001, Dialogues in clinical neuroscience.

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

M. Baulac, J. Prud'homme, A. Brice, 1999, American journal of human genetics.

SCN1A-related epilepsy with recessive inheritance: Two further families.

C. Depienne, V. des Portes, A. Rastetter, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Acute behavioral crises in psychiatric inpatients with autism spectrum disorder (ASD): recognition of concomitant medical or non-ASD psychiatric conditions predicts enhanced improvement.

D. Cohen, J. Xavier, N. Bodeau, 2015, Research in developmental disabilities.

Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

David Cohen, Claudine Laurent, C. Laurent, 2013, Molecular Autism.

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

C. Depienne, C. Cazeneuve, R. Nabbout, 2008, Journal of Medical Genetics.

Fever, genes, and epilepsy

M. Baulac, G. Huberfeld, J. Serratosa, 2004, The Lancet Neurology.

Monogenic idiopathic epilepsies

M. Baulac, M. Ruberg, A. Brice, 2004, The Lancet Neurology.

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

H. Lerche, G. Teodorescu, J. Poncer, 2009, Human mutation.

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

A Dürr, Y Agid, E. Hirsch, 1998, Human molecular genetics.

Outcome of pediatric epilepsies in adulthood.

F. Dubeau, I. Gourfinkel‐An, 2013, Handbook of clinical neurology.

Risk factors of acute behavioral regression in psychiatrically hospitalized adolescents with autism.

C. Barthélémy, D. Cohen, N. Bodeau, 2010, Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent.

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado‐Joseph disease

E. Hirsch, Y. Agid, A. Brice, 1998, Human mutation.

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

M. Vidailhet, D. Galanaud, A. Durr, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Basilar Artery Diameter and 5-Year Mortality in Patients With Stroke

Pierre Amarenco, Julien Labreuche, P. Amarenco, 2006, Stroke.

Familial form of typical childhood absence epilepsy in a consanguineous context

C. Depienne, R. Gouider, E. Tournier-Lasserve, 2010, Epilepsia.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

Pier D Lambiase, Henry Houlden, Josemir W Sander, 2015, Brain : a journal of neurology.

A clinical and neurophysiological motor signature of Unverricht-Lundborg disease.

V. Navarro, S. Rivaud-Pechoux, S. Dupont, 2017, Revue neurologique.

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.

Y. Agid, A. Durr, T. Klockgether, 1996, Human molecular genetics.

Changes in GAD67 mRNA expression evidenced by in situ hybridization in the brain of R6/2 transgenic mice

A. Hartmann, K. Parain, A. Brice, 2003, Journal of neurochemistry.

Metabolic changes in the basal ganglia of patients with Huntington's disease: an in situ hybridization study of cytochrome oxidase subunit I mRNA

E. Hirsch, Y. Agid, M. Vila, 2002, Journal of neurochemistry.

Differential distribution of the normal and mutated forms of huntingtin in the human brain

Yves Agid, Laszlo Tora, E. Hirsch, 1997, Annals of neurology.

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

F. Sedel, J. Stirnemann, N. Belmatoug, 2011, Brain and Development.

Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset

E. Hirsch, Y. Agid, C. Duyckaerts, 1998, Neuroreport.

[Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?].

N. Baumann, F. Sedel, M. Verny, 2006, Revue neurologique (Paris).

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

C. Depienne, O. Dulac, S. Baulac, 2011, Journal of Molecular Medicine.

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

I. Scheffer, M. Baulac, S. Berkovic, 2007, Epilepsy Research.

pilepsy in Autism is Associated with Intellectual isability and Gender : Evidence from a Meta-Analysi

M. Baulac, L. Mottron, D. Cohen, 2008 .

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

C. Adam, S. Dupont, C. Depienne, 2010, Journal of Medical Genetics.