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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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