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European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Human Genetics|May 14, 2023
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderGianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, et al.
Brain : a Journal of Neurology|June 11, 2021
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumClaudia M Bonardi, Henrike O Heyne, Martina Fiannacca, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Epilepsy & Behavior : E&B|June 13, 2013
Consensus on diagnosis and management of JME: From founder's observations to current trendsDorothée G A Kasteleijn-Nolst Trenité, Bettina Schmitz, Dieter Janz, et al.
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsKatrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Italian Journal of Pediatrics|August 30, 2022
Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)Sara Isoldi, Giovanni Di Nardo, Saverio Mallardo, et al.
Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of SYN1-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
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