[HTML][HTML] Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature
AN Sahly, R Whitney, G Costain, V Chau… - … : European Journal of …, 2023 - Elsevier
Aim To report seizure outcomes in children with GATOR1 gene complex disorders who
underwent epilepsy surgery and perform a systematic literature search to study the available …
underwent epilepsy surgery and perform a systematic literature search to study the available …
DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature
C Gu, X Wei, D Yan, Y Cai, D Li, J Shu… - Epileptic …, 2024 - Wiley Online Library
Objective DEPDC5 emerges to play a vital role in focal epilepsy. However, genotype–
phenotype correlation in DEPDC5‐related focal epilepsies is challenging and controversial …
phenotype correlation in DEPDC5‐related focal epilepsies is challenging and controversial …
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report
I Chandrasekar, A Tourney, K Loo… - American Journal of …, 2021 - Wiley Online Library
Hemimegalencephaly (HME) is a rare hamartomatous congenital malformation of the brain
characterized by dysplastic overgrowth of either one of the cerebral hemispheres. HME is …
characterized by dysplastic overgrowth of either one of the cerebral hemispheres. HME is …
Novel GATOR1 variants in focal epilepsy
M Kovačević, M Janković, M Branković, O Milićević… - Epilepsy & Behavior, 2023 - Elsevier
Introduction Variants in GATOR1 genes are well established in focal epilepsy syndromes. A
strong association of GATOR1 variants with drug-resistant epilepsy as well as an increased …
strong association of GATOR1 variants with drug-resistant epilepsy as well as an increased …
The Spectrum of DEPDC5-Related Epilepsy
G Salomone, M Comella, A Portale… - Journal of Pediatric …, 2023 - thieme-connect.com
Disheveled EGL-10 and pleckstrin domain-containing protein 5 (DEPDC5) is a key member
of the GAP activity toward rags complex 1 complex, which inhibits the mammalian target of …
of the GAP activity toward rags complex 1 complex, which inhibits the mammalian target of …