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Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

Seizure - 1 Apr 2017

Ragona Francesca, Castellotti Barbara, Salis Barbara, Magri Stefania, DiFrancesco Jacopo C, Nardocci Nardo, Franceschetti Silvana, Gellera Cinzia, Granata Tiziana

Abstract excerpt

Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target...

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PMID: 28292732
DOI: 10.1016/j.seizure.2017.03.003

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