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Neurology|September 29, 2004
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)C Bruno, O P van Diggelen, D Cassandrini, et al.
American Journal of Human Genetics|April 28, 2001
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneityM Malacarne, E Gennaro, F Madia, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 21, 2015
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsyA Müller, I Helbig, C Jansen, et al.
European Journal of Neurology|October 27, 2015
Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implicationA Verrotti, D Laino, V E Rinaldi, et al.
Neurology|June 25, 2003
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancyR Nabbout, E Gennaro, B Dalla Bernardina, et al.
Epilepsy Research|August 30, 2016
Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter studyP De Liso, F Vigevano, N Specchio, et al.
Human Molecular Genetics|July 11, 2000
Genome search for susceptibility loci of common idiopathic generalised epilepsiesT Sander, H Schulz, K Saar, et al.
Science (New York, N.Y.)|March 8, 1996
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansionV Campuzano, L Montermini, M D Moltò, et al.
Genetics in Medicine Open|December 13, 2024
ARID1B-related disorder in 87 adults: Natural history and self-sustainabilityP J van der Sluijs, M Gösgens, A J M Dingemans, et al.
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