TY - JOUR
T1 - ILAE genetic literacy series
T2 - Focal cortical dysplasia
AU - the ILAE Genetics Commission and the ILAE Genetics Literacy Taskforce
AU - Macdonald-Laurs, Emma
AU - Leventer, Richard J.
AU - Perucca, Piero
AU - Cross, J. Helen
AU - Lerche, Holger
AU - Esterhuizen, Alina I.
AU - Lopes-Cendes, Iscia
AU - Tsai, Meng Han
AU - Berkovic, Samuel F.
AU - Lowenstein, Daniel H.
AU - Tan, Nigel C.K.
AU - Helbig, Ingo
AU - Mefford, Heather C.
AU - Brunklaus, Andreas
AU - Lesca, Gaetan
AU - Palmer, Elizabeth Emma
AU - McTague, Amy
AU - Fakhfakh, Faiza
AU - Delanty, Norman
AU - Lowenstein, Daniel H.
AU - Tan, Nigel C.K.
AU - Helbig, Ingo
AU - Esterhuizen, Alina I.
N1 - Publisher Copyright:
© 2024 The Author(s). Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
PY - 2025/2
Y1 - 2025/2
N2 - Focal cortical dysplasia (FCD) is a common cause of drug-resistant focal epilepsy in children and young adults and is often surgically remediable. The genetics of FCD are increasingly understood due to the ability to perform genomic testing including deep sequencing of resected FCD tissue specimens. There is clear evidence that FCD type II occurs secondary to both germline and somatic mTOR pathway variants, while emerging literature supports the role of SLC35A2, a glycosylation gene, in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). Herein, we provide a review of FCDs focusing on their clinical phenotypes, genetic basis, and management considerations when performing genetic testing in this patient group.
AB - Focal cortical dysplasia (FCD) is a common cause of drug-resistant focal epilepsy in children and young adults and is often surgically remediable. The genetics of FCD are increasingly understood due to the ability to perform genomic testing including deep sequencing of resected FCD tissue specimens. There is clear evidence that FCD type II occurs secondary to both germline and somatic mTOR pathway variants, while emerging literature supports the role of SLC35A2, a glycosylation gene, in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). Herein, we provide a review of FCDs focusing on their clinical phenotypes, genetic basis, and management considerations when performing genetic testing in this patient group.
KW - GATOR1
KW - bottom-of-sulcus dysplasia
KW - familial focal epilepsy
KW - focal epilepsy genetics
KW - mTOR
UR - https://www.scopus.com/pages/publications/85211614615
UR - https://pure.lib.cgu.edu.tw/en/publications/f51a913f-6764-40fa-ab9d-0dd02a6f0879
U2 - 10.1002/epd2.20308
DO - 10.1002/epd2.20308
M3 - 文章
C2 - 39641771
AN - SCOPUS:85211614615
SN - 1294-9361
VL - 27
SP - 1
EP - 8
JO - Epileptic disorders : international epilepsy journal with videotape
JF - Epileptic disorders : international epilepsy journal with videotape
IS - 1
ER -