Associated Papers
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.
Podkorytova I et al.
The Journal of International Medical Research, 2025
Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations.
Li B et al.
Neurogenetics, 2025
Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
Wang H et al.
Epilepsia Open, 2023
37259768 (PubMed )
Supplement: EPI4-8-969-s002.pdf
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review.
Zhang X et al.
Frontiers in Neurology, 2021
The landscape of epilepsy-related GATOR1 variants.
Baldassari S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.
Iffland PH et al.
Neurobiology of Disease, 2018
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S et al.
Journal of Medical Genetics, 2016
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
Scerri T et al.
Annals of Clinical and Translational Neurology, 2015
Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.
Kaur A
Clinical Genetics, 2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM et al.
Nature Genetics, 2013
Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies.
Malpass K
Nature Reviews. Neurology, 2013
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