نتایج جستجو برای: scn1a

تعداد نتایج: 569  

Journal: :Archives of neurology 2009
Saul A Mullen Ingrid E Scheffer

Voltage-gated sodium channels are critical for membrane excitability. Mutations in the genes coding for these proteins cause diseases related to altered excitability of cardiac or skeletal muscle and neurons. Mutations in the central nervous system-specific voltage-gated sodium channel alpha1 subunit gene (SCN1A) lead not only to seizure syndromes but also to familial hemiplegic migraine. The e...

Journal: :Brain & development 2009
Christoph Lossin

Over the past 10 years mutations in voltage-gated sodium channels (Na(v)s) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Na(v)1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from benign febrile seizures to extremely serious conditions, such as Dravet's syndrom...

Journal: :Journal of Pediatric Neurosciences 2020

2017
Martin Poryo Oriana Clasen Barbara Oehl‐Jaschkowitz Alexander Christmann Ludwig Gortner Sascha Meyer

Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.

Journal: :Archives of Neuroscience 2018

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