نتایج جستجو برای: scn1a

تعداد نتایج: 569  

Journal: :Cephalalgia : an international journal of headache 2014
Anne Ducros

FHM3 is a rare subtype of familial hemiplegic migraine (FHM) caused by mutations in the neuronal sodium channel gene SCN1A (1). Only five FHM3 mutations have been described in a few families since the identification of SCN1A as the third FHM gene in 2005 (1–4). In the present issue of Cephalalgia, Weller et al. (5) report the identification of two novel SCN1A FHM3 mutations in two families with...

Journal: :Journal of Neurology & Stroke 2020

Journal: :Neuron 2002
Stephen C. Cannon

Voltage-gated Na(+) channels are the workhorses of spike generation and propagation in excitable cells. Mutations in Na(+) channel genes have been identified in disorders causing episodic dysfunction of heart, skeletal muscle, and brain. Lossin and colleagues from Al George's lab report in this issue of Neuron that three missense mutations of SCN1A found in a dominant epilepsy syndrome disrupt ...

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