A. Gautier

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

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

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

B. Menten, A. Meurs, S. Janssens, 2014, European Journal of Human Genetics.

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

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

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

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.

Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.

E. Roze, T. Billette de Villemeur, D. Doummar, 2014, JIMD reports.

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene

J. Chelly, B. Girard, J. Nectoux, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

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

Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.

O. Dulac, C. Chiron, R. Nabbout, 2018, Epileptic disorders : international epilepsy journal with videotape.

Ring 14 chromosome presenting as early‐onset isolated partial epilepsy

D. Ville, V. des Portes, M. Till, 2009, Developmental medicine and child neurology.

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France

P. Derambure, P. Kahane, C. Marchal, 2016, Epilepsia.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.