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Seizure|June 21, 2017
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsyMaria Stella Vari, Monica Traverso, Tommaso Bellini, et al.
Epilepsy & Behavior Reports|July 2, 2026
Expanding the phenotypic Spectrum of ZNF711: Autism and epilepsy in two siblingsGloria Urciuoli, Nicola Simeone, Marica Rubino, et al.
Translational Pediatrics|March 9, 2023
Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaustive literature reviewRaffaele Falsaperla, Simona Domenica Marino, Giulia Salomone, et al.
Molecular Genetics and Metabolism|January 26, 2007
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effectMassimo Santoro, Anna Modoni, Mario Sabatelli, et al.
Epilepsia|April 23, 2004
Autosomal recessive idiopathic epilepsy in an inbred family from Turkey: identification of a putative locus on chromosome 9q32-33Betül Baykan, Francesca Madia, Nerses Bebek, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|July 31, 2023
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathySilvia Boeri, Marcello Scala, Francesca Madia, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|November 20, 2009
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosisMarco Luigetti, Francesca Madia, Amelia Conte, et al.
Epilepsy Research|February 2, 2010
Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body diseaseLaura Canafoglia, Claudia Ciano, Elisa Visani, et al.
European Journal of Medical Genetics|September 19, 2022
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathyAlessandro Naim, Andrea Accogli, Elisabetta Amadori, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|April 3, 2026
Vagus nerve hypotrophy in genetically confirmed cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) patientsJacopo Di Giovanni, Gabriella Silvestri, Gianmarco Dalla Zanna, et al.
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