Novel GATOR1 variants in focal epilepsy
Author:
Publisher
Elsevier BV
Subject
Behavioral Neuroscience,Neurology (clinical),Neurology
Reference51 articles.
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3. Epilepsy Phenome/Genome Project. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study;Epi4K consortium;Lancet Neurol,2017
4. The landscape of epilepsy-related GATOR1 variants;Baldassari;Genet Med,2019
5. Mutations in DEPDC5 cause familial focal epilepsy with variable foci;Dibbens;Nat Genet,2013
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1. Pathophysiological mechanisms underlying the development of focal cortical dysplasia and their association with epilepsy: Experimental models as a research approach;Seizure: European Journal of Epilepsy;2024-10
2. DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature;Epileptic Disorders;2024-05-16
3. Familial occurrence of seizure disorders across MRI defined structural focal epilepsy etiology;Journal of Clinical Neuroscience;2024-05
4. Phenotypic and genotypic characterization of NPRL3‐related epilepsy: Two case reports and literature review;Epilepsia Open;2023-11-28
5. Novel variants in established epilepsy genes in focal epilepsy;Seizure: European Journal of Epilepsy;2023-08
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