S. Marignier

Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.

D. Ville, V. des Portes, C. Ginguéné, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

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

Autoimmune N-methyl-D-aspartate receptor encephalitis is a differential diagnosis of infectious encephalitis.

F. Ducray, J. Honnorat, A. Mailles, 2014, The Journal of infection.

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

V. des Portes, P. Gaucherand, C. Mellerio, 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

Alice C. Roy, Y. Paulignan, T. Nazir, 2014, Orphanet Journal of Rare Diseases.

‘Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood’

L. Vallée, S. Auvin, V. des Portes, 2008, Developmental medicine and child neurology.

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

Y. Paulignan, T. Nazir, N. Hadjikhani, 2016, PLoS ONE.

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

V. des Portes, G. Lesca, D. Sanlaville, 2012, European journal of medical genetics.

[Acute hemiparesis revealing a neuroborreliosis in a child].

V. des Portes, L. Guibaud, C. Renard, 2008, Archives de pédiatrie.

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

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