Identification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings

OBJECTIVE: Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic‐related migration disorder. It has been attributed to loss‐of‐function of the ADGRG1 gene, which encodes an adhesion G protein‐coupled receptor, ADGRG1/GPR56. We report the EEG findings of BFPP in three Asian patients, and c...

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Detalles Bibliográficos
Autores principales: Kuo, Cheng‐Yen, Tsai, Meng‐Han, Lin, Hsi‐Hsien, Wang, Yu‐Chi, Singh, Abhishek Kumar, Chang, Chin‐Chen, Lin, Jainn‐Jim, Hung, Po‐Cheng, Lin, Kuang‐Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977754/
https://www.ncbi.nlm.nih.gov/pubmed/36524291
http://dx.doi.org/10.1002/epi4.12685

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