IndraLab

Statements


SCN1A activates FHM3. 8 / 8
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"Familial hemiplegic migraine type 3 (FHM3) is seldom caused by mutations in SCN1A (71)."

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"FHM3 is caused by mutations in SCN1A, encoding the voltage-gated Na+ channel NaV1.1 predominantly expressed in inhibitory interneurons."

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"FHM1, FHM2 and FHM3 are caused by mutations in the ion-channel genes CACNA1A, ATP1A2 and SCN1A, respectively [XREF_BIBR - XREF_BIBR]."

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"In the present study, we describe a case of FHM3 caused by the mutation (c.4495T>C) of the SCN1A gene in a Chinese family."

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"Until now, only eight SCN1A missense mutations have been described to cause FHM3."

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"FHM is a genetically heterogeneous disease, in which mutations can occur in the ion transportation genes CACNA1A, ATP1A2, and SCN1A, promoting the different types of familial migraines, FHM1, FHM2 and FHM3."

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"The familial hemiplegic migraine type 3 (FHM3) is seldom caused by mutations in SCN1A."

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"FHM3 is caused by mutations in the SCN1A gene that encodes the alpha subunit of the neuronal voltage gated sodium channel [XREF_BIBR]."
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