Mutations in STX1B , encoding a presynaptic protein, cause fever-associated epilepsy syndromes
2014
Holger Lerche, Camila Esguerra and colleagues report the identification of inactivating mutations in
STX1Bin individuals with various seizure-
related disorders, including
febrile seizuresand epilepsy. Functional studies indicate that
STX1Bacts in the presynaptic release machinery.
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