Expanding the phenotypic spectrum of CACNA1H mutations

The CACNA1H gene mutations encoding the α1H subunit of Cav3.2 T-type calcium channels have been associated with generalized epilepsy. Focal or multifocal epilepsy and systemic (immunologic, gastrointestinal) involvement associated with these mutations have not been described previously. We detail clinical characteristics of five patients with CACNA1H mutations and expand its phenotypic spectrum. (Source: Pediatric Neurology)

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