Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome - Ortega-Moreno, L; Giráldez, B G; Verdú, A; García-Campos, O; Sánchez-Martín, G; Serratosa, J M; Guerrero-López, R (Neurologia (Barcelona, Spain), 2016)
Keywords: Child, Preschool; Exons - genetics; Humans; Intellectual Disability - genetics; Intellectual Disability - psychology; Magnetic Resonance Imaging; Male; Munc18 Proteins - genetics; Mutation - genetics; Spasms, Infantile - diagnostic imaging; Spasms, Infantile - genetics; Spasms, Infantile - psychology; Early-onset epileptic encephalopathy; Epilepsia; Clinical genetics; Genética clínica; Síndrome de Ohtahara; Epilepsy; STXBP1; Ohtahara syndrome; Encefalopatía epiléptica de inicio precoz