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Epilepsia|August 21, 2021
Benzodiazepine administration patterns before escalation to second-line medications in pediatric refractory convulsive status epilepticusTheodore Sheehan, Marta Amengual-Gual, Alejandra Vasquez, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literatureParisa Hemati, Anya Revah-Politi, Haim Bassan, et al.
Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
NPJ Genomic Medicine|March 1, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomaliesJil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature Communications|February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
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