Article
Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.
Pediatric neurology - 1 Jan 2002
Wada Takahito, Kobayashi Norio, Takahashi Yoshio, Aoki Tomoko, Watanabe Takako, Saitoh Shinji
Abstract excerpt
We report a Japanese family carrying a T666M missense mutation of CACNA1A. Affected members demonstrated a strikingly wide clinical spectrum including migraine, hemiplegia, coma, and progressive cerebellar ataxia. Despite such variability of the clinical features, they demonstrated similar magnet...
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