An integrated genetic analysis of epileptogenic brain malformed lesions.
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ABSTRACT:
SUBMITTER: Fujita A
PROVIDER: S-EPMC9983246 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
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An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita Atsushi A Kato Mitsuhiro M Sugano Hidenori H Iimura Yasushi Y Suzuki Hiroharu H Tohyama Jun J Fukuda Masafumi M Ito Yosuke Y Baba Shimpei S Okanishi Tohru T Enoki Hideo H Fujimoto Ayataka A Yamamoto Akiyo A Kawamura Kentaro K Kato Shinsuke S Honda Ryoko R Ono Tomonori T Shiraishi Hideaki H Egawa Kiyoshi K Shirai Kentaro K Yamamoto Shinji S Hayakawa Itaru I Kawawaki Hisashi H Saida Ken K Tsuchida Naomi N Uchiyama Yuri Y Hamanaka Kohei K Miyatake Satoko S Mizuguchi Takeshi T Nakashima Mitsuko M Saitsu Hirotomo H Miyake Noriko N Kakita Akiyoshi A Matsumoto Naomichi N
Acta neuropathologica communications 20230302 1
Focal cortical dysplasia is the most common malformation during cortical development, sometimes excised by epilepsy surgery and often caused by somatic variants of the mTOR pathway genes. In this study, we performed a genetic analysis of epileptogenic brain malformed lesions from 64 patients with focal cortical dysplasia, hemimegalencephy, brain tumors, or hippocampal sclerosis. Targeted sequencing, whole-exome sequencing, and single nucleotide polymorphism microarray detected four germline and ...[more]
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