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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.

Cheng-Yen KuoMeng-Han TsaiHsi-Hsien LinYu-Chi WangAbhishek Kumar SinghChang-Chih ChenJainn-Jim LinPo-Cheng HungKuang-Lin Lin
Published in: Epilepsia open (2022)
Sleep EEG findings of high-amplitude rhythmic activity in our BFPP cases were only noted during infancy and childhood. We also confirmed that the missense variant (p.Leu290Pro) led to loss of function due to a reduction in cell surface GPR56 expression.
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