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Elife|January 17, 2023
Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.Biorxiv : the Preprint Server for Biology|March 27, 2026
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsyRoberta Castelli, Carla Marini, Alessandro Porro, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.Brain : a Journal of Neurology|May 31, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaMarie Coutelier, Cyril Goizet, Alexandra Durr, et al.American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.Neurology|June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing EpilepsyAndrea Accogli, Gert Wiegand, Marcello Scala, et al.Annals of Neurology|August 23, 2024
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related EpilepsyVincent Moya Quiros, Ahmed Adham, Philippe Convers, et al.Journal of Medical Genetics|June 14, 2012
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disabilityJulien Thevenon, Estelle Lopez, Boris Keren, et al.Epilepsia|February 25, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practiceAndreas Brunklaus, Juanjiangmeng Du, Felix Steckler, et al.Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.Pageof 18