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American Journal of Human Genetics|August 5, 2026
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological featuresMarina Boon, Meghan R Mulligan, Jolijn J A Verseput, et al.
Neurology|July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into AdulthoodHannah Stamberger, David Crosiers, Ganna Balagura, et al.
American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 24, 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative diseaseElisa Calì, Sheng-Jia Lin, Clarissa Rocca, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Epilepsia|March 24, 2025
Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world studyEmanuele Cerulli Irelli, Adolfo Mazzeo, Roberto H Caraballo, et al.
American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.
Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
Brain : a Journal of Neurology|October 21, 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresCristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, et al.
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