Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy

Mathieu Milh (1) , Antonio Falace (2) , Nathalie Villeneuve (1) , Nicola Vanni , Pierre Cacciagli (3) , Stefania Assereto , Rima Nabbout (4) , Fabio Benfenati (5) , Federico Zara (6) , Brigitte Chabrol (7) , Laurent Villard (3) , Anna Fassio (8)

1 Epilepsie et ischémie cérébrale
2 IBDM - Institut de Biologie du Développement de Marseille
3 GMGF - Génétique Médicale et Génomique Fonctionnelle
4 National Referral Center for Rare Epilepsies - Department of Pediatric Neurology
5 IIT - Istituto Italiano di Tecnologia
6 Pediatric Neurology and Neuromuscular Diseases Unit
7 Service de Neurologie Pédiatrique
8 UniGe - Università degli studi di Genova = University of Genoa

Domaines: Sciences du Vivant [q-bio]; Génétique; Médecine humaine et pathologie; Neurosciences [q-bio.NC]

Mathieu Milh, Antonio Falace, Nathalie Villeneuve, Nicola Vanni, Pierre Cacciagli, et al.. Novel Compound Heterozygous Mutations in TBC 1 D 24 Cause Familial Malignant Migrating Partial Seizures of Infancy. Human Mutation, 2013, 34 (6), pp.869 - 872. ⟨10.1002/humu.22318⟩. ⟨hal-01668674⟩