Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy-Reference-Cited by-同舟云学术

Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy

Published:2013-04-12 Issue:6 Volume:34 Page:869-872
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Milh Mathieu,Falace Antonio¹,Villeneuve Nathalie²,Vanni Nicola³,Cacciagli Pierre,Assereto Stefania³,Nabbout Rima⁴,Benfenati Fabio,Zara Federico³,Chabrol Brigitte,Villard Laurent,Fassio Anna

Affiliation:

1. Department of Experimental Medicine, Section Physiology; University of Genoa; Genoa; Italy

2. Assistance Publique Hôpitaux de Marseille; Service de Neurop'diatrie, Hôpital d'Enfants de La Timone; Marseille; France

3. Muscular and Neurodegenerative Disease Unit; G. Gaslini Institute, University of Genoa; Genoa; Italy

4. Assistance Publique Hôpitaux de Paris; Centre de Référence des Epilepsies Rares de l'Enfant, Hôpital Necker Enfants Malades; Paris; France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22318/fullpdf

Reference14 articles.

1. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy;Barcia;Nat Genet.,2012

2. Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients;Caraballo;J Child Neurol,2008

3. De novoSCN1A mutations in migrating partial seizures of infancy;Carranza Rojo;Neurology,2011

4. Migrating partial seizures in infancy: a malignant disorder with developmental arrest;Coppola;Epilepsia,1995

5. Malignant migrating partial epilepsy of infancy: an epilepsy syndrome of unknown etiology;Coppola;Epilepsia,2009

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