The epileptology of Koolen‐de Vries syndrome: Electro‐clinico‐radiologic findings in 31 patients - Myers, Kenneth A.; Mandelstam, Simone A.; Ramantani, Georgia; Rushing, Elisabeth J.; Vries, Bert B.; Koolen, David A.; Scheffer, Ingrid E. (Epilepsia (Copenhagen), 2017)
Keywords: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - drug therapy; Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Adolescent; Adult; Anatomy; Anticonvulsants - therapeutic use; Attention; Autonomic nervous system; Axon guidance; Brain architecture; Brain malformation; Brain stem; Brain tumors; Cerebellum; Child; Child, Preschool; Children; Chromosome Deletion; Chromosomes, Human, Pair 17 - genetics; Congenital defects; Corpus callosum; Cortex; DNA Mutational Analysis; Dysplasia; EEG; Electroencephalography - drug effects; Epilepsy; Epilepsy - diagnosis; Epilepsy - drug therapy; Epilepsy - genetics; Epilepsy - physiopathology; Female; Firing pattern; Genetic Carrier Screening; Genetic screening; Hippocampus; Humans; Intellectual Disability - diagnosis; Intellectual Disability - drug therapy; Intellectual Disability - genetics; Intellectual Disability - physiopathology; KANSL1; Koolen‐de Vries syndrome; Magnetic resonance imaging; Male; Mutation; Nuclear Proteins - genetics; Periventricular nodular heterotopia; Phenotype; Phenotyping; Seizures; Surgery; Treatment Outcome; Young Adult; Brain malformation; KANSL1; Epilepsy; Corpus callosum; Koolen-de Vries syndrome; Periventricular nodular heterotopia