IndraLab

Statements

Mutated CACNA1A activates FHM1. 3 / 3
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"FHM is classified into 3 types : FHM1, which is caused by CACNA1A mutations on chromosome 19p13, FHM2, caused by ATP1A2 mutations on chromosome 1q21-23, and FHM3, caused by SCN1A mutations on chromosome 2q24 [XREF_BIBR, XREF_BIBR]."
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"To date, 18 missense mutations of the CACNA1A gene that lead to FHM1 have been discovered."
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"While some gain-of-function CACNA1A mutations cause only FHM1, others can lead to additional maladies, such as epileptic attacks."
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