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Annals of Neurology|May 21, 2013
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsyYuki Hitomi, Erin L Heinzen, Simona Donatello, et al.
Human Molecular Genetics|October 22, 2004
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathwayHsien-Yang Lee, Ying Xu, Yong Huang, et al.
Acta Neurologica Belgica|January 22, 2003
Brain function in the vegetative stateSteven Laureys, Sylvie Antoine, Melanie Boly, et al.
Brain : a Journal of Neurology|September 19, 2019
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEPMathieu Kuchenbuch, Giulia Barcia, Nicole Chemaly, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 8, 2021
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patientsMarie Le Roux, Magalie Barth, Sophie Gueden, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
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