Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome

• Published in: Neurologia (Barcelona, Spain) Vol. 31; no. 8; p. 523
• Main Authors: Ortega-Moreno, L, Giráldez, B G, Verdú, A, García-Campos, O, Sánchez-Martín, G, Serratosa, J M, Guerrero-López, R
• Format: Journal Article
• Language: English; Spanish
• Published: Spain 01.10.2016
• Subjects: 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
• ISSN: 1578-1968
• DOI: 10.1016/j.nrl.2014.10.017

Ohtahara syndrome (OS, OMIM#308350, ORPHA1934) is an early-onset epileptic encephalopathy (EOEE) characterised by spasms, intractable seizures, suppression-burst pattern on the electroencephalogram, and severe psychomotor retardation. Mutations in STXBP1 -a gene that codes for syntaxin binding protein 1 and is involved in synaptic vesicle exocytosis- has been identified in most patients with OS. We report the case of a 19-month-old child with OS who displays a previously unreported mutation in STXBP1 (c.1249+2T>C, G417AfsX7). This mutation is located in a donor splice site and eliminates exon 14, resulting in a truncated protein. This previously unreported STXBP1 mutation in a subject with Ohtahara syndrome and non-lesional magnetic resonance imaging (MRI) broadens the mutational spectrum associated with this devastating epileptic syndrome.