Photo by andreacaramello from unsplash
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… Click to show full abstract
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 confirmed that change in protein function was caused by the novel missense variant (p.Leu290Pro).
Keywords:
frontoparietal polymicrogyria;
novel missense;
bilateral frontoparietal;
adgrg1
Journal Title: Epilepsia Open
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Epilepsia Open
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!