Genotype–phenotype correlations in alternating hemiplegia of childhood

Masayuki Sasaki; Atsushi Ishii; Yoshiaki Saito; Naoya Morisada; Kazumoto Iijima; Satoshi Takada; Atsushi Araki; Yuko Tanabe; Hidee Arai; Sumimasa Yamashita; Tsukasa Ohashi; Yoichiro Oda; H Ichiseki; Shininchi Hirabayashi; Akihiro Yasuhara; Hisashi Kawawaki; Sadami Kimura; Masayuki Shimono; Seiro Narumiya; Motomasa Suzuki; Takeshi Yoshida; Yoshinobu Oyazato; Shuichi Tsuneishi; Shiro Ozasa; Kenji Yokochi; Sunao Dejima; Tomoyuki Akiyama; Nobuyuki Kishi; Ryutaro Kira; Toshio Ikeda; Hirokazu Oguni; Bo Zhang; Shoji Tsuji; Shinichi Hirose

doi:10.1212/wnl.0000000000000102

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Abstract

The Glu815Lys genotype appears to be associated with the most severe AHC phenotype. Although AHC is not generally seen as a progressive disorder, it should be considered a disorder that deteriorates abruptly or in a stepwise fashion, particularly in patients with the Glu815Lys mutation.

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Sasaki et al. (2014) studied this question.

synapsesocial.com/papers/69dff5cf1827a1d0b125578e https://doi.org/10.1212/wnl.0000000000000102

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Genotype–phenotype correlations in alternating hemiplegia of childhood

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Abstract

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Genotype–phenotype correlations in alternating hemiplegia of childhood

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Abstract

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