Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Highlights • Genetic analysis of 46 patients with generalized epilepsy with febrile seizures plus (GEFS+) was performed. • One de novo missense mutation of FGF13 was found in a single patient. • Our data suggests FGF13 is not a common cause of GEFS+.

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Bibliographische Detailangaben
Veröffentlicht in:	Epilepsy research 2016-12, Vol.128, p.48-51
Hauptverfasser:	Rigbye, Kristin A, van Hasselt, Peter M, Burgess, Rosemary, Damiano, John A, Mullen, Saul A, Petrovski, Slavé, Puranam, Ram S, van Gassen, Koen L.I, Gecz, Jozef, Scheffer, Ingrid E, McNamara, James O, Berkovic, Samuel F, Hildebrand, Michael S
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool Cohort Studies Edema - genetics Epilepsy, Generalized - genetics Face Female FGF13 Fibroblast Growth Factors - genetics GEFS Genes, X-Linked Genetic Testing Humans Male Mutation, Missense Neurology Phenotype Seizures, Febrile - genetics Sequencing SOXF Transcription Factors - genetics
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Beschreibung
Zusammenfassung:	Highlights • Genetic analysis of 46 patients with generalized epilepsy with febrile seizures plus (GEFS+) was performed. • One de novo missense mutation of FGF13 was found in a single patient. • Our data suggests FGF13 is not a common cause of GEFS+.
ISSN:	0920-1211 1872-6844
DOI:	10.1016/j.eplepsyres.2016.10.008