IndraLab

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Mutated SCN1A inhibits DHPS. 2 / 2

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"Loss-of-function SCN1A mutations cause DS, a debilitating form of epilepsy characterized by complex febrile seizures in the first year of life, partial and/or generalized afebrile epilepsy, intellectual disability, and ataxia."

22926190

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"DS, the more severe disorder, is often caused by loss-of-function SCN1A mutations, while GEFS+ results from subtle changes in the biophysical properties of Na v 1.1 channels."

21801172

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IndraLab

Statements

Mutated SCN1A inhibits DHPS. 2 / 2

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