A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3

OBJECTIVE: In this study, we report the case of a 24-year-old man with intellectual disability and childhood-onset seizures. This patient had newly identified biallelic variants in the laminin subunit gamma 3 (LAMC3) gene with unreported cortical malformation. METHODS: Exome sequencing. RESULTS: Gen...

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Detalles Bibliográficos
Autores principales: Abe, Kazuo, Ando, Kumiko, Kato, Mitsuhiro, Saitsu, Hirotomo, Nakashima, Mitsuko, Aoki, Shintaro, Kimura, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128070/
https://www.ncbi.nlm.nih.gov/pubmed/35620139
http://dx.doi.org/10.1212/NXG.0000000000000680

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128070/
https://www.ncbi.nlm.nih.gov/pubmed/35620139
http://dx.doi.org/10.1212/NXG.0000000000000680

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