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Archives of Neurology|August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severityYoann Saillour, Nathalie Carion, Chloé Quelin, et al.
Brain : a Journal of Neurology|September 19, 2019
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEPMathieu Kuchenbuch, Giulia Barcia, Nicole Chemaly, et al.
American Journal of Human Genetics|August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Orphanet Journal of Rare Diseases|December 14, 2011
Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective studySophie Ng Wing Tin, Nadine Martin-Duverneuil, Ahmed Idbaih, et al.
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