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

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

Abstract 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 patient...

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Bibliographic Details
Main Authors: Cheng‐Yen Kuo, Meng‐Han Tsai, Hsi‐Hsien Lin, Yu‐Chi Wang, Abhishek Kumar Singh, Chih‐Chen Chang, Jainn‐Jim Lin, Po‐Cheng Hung, Kuang‐Lin Lin
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:Epilepsia Open
Subjects:
congenital CNS malformation
epilepsy
genetic
polymicrogyria
Online Access:https://doi.org/10.1002/epi4.12685

Internet

https://doi.org/10.1002/epi4.12685

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