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 SinghChin-Chen ChangJainn-Jim LinPo-Cheng HungKuang-Lin LinPublished 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.
Keyphrases
- cell surface
- intellectual disability
- resting state
- weight gain
- poor prognosis
- functional connectivity
- early life
- autism spectrum disorder
- depressive symptoms
- sleep quality
- physical activity
- working memory
- anti inflammatory
- fatty acid
- body mass index
- binding protein
- case report
- bioinformatics analysis
- long non coding rna
- young adults
- high density