Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.
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ABSTRACT:
SUBMITTER: Hiromoto Y
PROVIDER: S-EPMC7713383 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Publications
Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.
Hiromoto Yoshitaka Y Azuma Yoshiteru Y Suzuki Yuichi Y Hoshina Megumi M Uchiyama Yuri Y Mitsuhashi Satomi S Miyatake Satoko S Mizuguchi Takeshi T Takata Atsushi A Miyake Noriko N Kato Mitsuhiro M Matsumoto Naomichi N
Human genome variation 20201203 1
Pathogenic FLNA variants can be identified in patients with seizures accompanied by periventricular nodular heterotopia (PVNH). It is unusual to find FLNA aberrations in epileptic patients without PVNH on brain imaging. We report a boy with cryptogenic West syndrome followed by refractory seizures and psychomotor delay. We performed whole-exome sequencing and identified a de novo missense variant in FLNA. It is noteworthy that this patient showed no PVNH. As no other pathogenic variants were fou ...[more]
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