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Nature Genetics|April 22, 2014
De novo mutations in HCN1 cause early infantile epileptic encephalopathyCaroline Nava, Carine Dalle, Agnès Rastetter, et al.JAMA Neurology|August 15, 2017
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and PhenotypesCarolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, et al.The Journal of Molecular Diagnostics : JMD|January 22, 2022
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, et al.Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.Cellular and Molecular Life Sciences : CMLS|March 28, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptorYuchen Xu, Rui Song, Riley E Perszyk, et al.American Journal of Human Genetics|May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.Brain : a Journal of Neurology|June 5, 2025
The genetic and phenotypic spectrum of GABRB1-related disordersCharissa Millevert, Anthony Sze Hon Kan, Moritz Hanke, et al.Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.Neurology|July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into AdulthoodHannah Stamberger, David Crosiers, Ganna Balagura, et al.Pageof 33