Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures

Febrile seizures affect 2-4% of all children and have been related to strong genetic predisposition (Berg et al., 2013). Recently, mutations of the STX1B gene have been identified as a shared genetic mechanism implicated in the pathogenesis of febrile seizures with or without epilepsy (Schubert et al., 2014). STX1B encodes the presynaptic protein syntaxin-1B, a significant component of the soluble-N-ethylmaleimide sensitive factor attachment receptor (SNARE) complex, which tethers synaptic vesicles in the presynaptic membrane and mediates the vesicle exocytosis and release of neurotransmitters at the synapse (Kearney, 2015).

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