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Article

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Journal of human genetics - 1 Dec 2024

Furukawa Shogo, Kato Mitsuhiro, Ishiyama Akihiko, Kumada Tomohiro, Yoshida Takeshi, Takeshita Eri, Chong Pin Fee, Yamanouchi Hideo, Kotake Yuko, Kyoda Takayoshi, Nomura Toshihiro, Miyata Yohane, Nakashima Mitsuko, Saitsu Hirotomo

Abstract excerpt

Lissencephaly is a rare brain malformation characterized by abnormal neuronal migration during cortical development. In this study, we performed a comprehensive genetic analysis using next-generation sequencing in 12 unsolved Japanese lissencephaly patients, in whom PAFAH1B1, DCX, TUBA1A, and ARX variants were excluded using the Sanger method. Exome sequencing (ES) was conducted on these 12 patients, identifying...

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PMID: 39123069
DOI: 10.1038/s10038-024-01283-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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