L Ortega-Moreno1, B G Giráldez1, A Verdú2, O García-Campos2, G Sánchez-Martín1, J M Serratosa3, R Guerrero-López1. 1. Laboratorio de Neurología y Unidad de Epilepsia, Servicio de Neurología, IIS-Fundación Jiménez Díaz, UAM, Madrid, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, España. 2. Unidad de Neuropediatría, Hospital Virgen de la Salud, Toledo, España. 3. Laboratorio de Neurología y Unidad de Epilepsia, Servicio de Neurología, IIS-Fundación Jiménez Díaz, UAM, Madrid, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, España. Electronic address: joseserratosa@me.com.
Abstract
INTRODUCTION: 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. PATIENT AND RESULTS: 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. CONCLUSION: 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.
INTRODUCTION:Ohtahara syndrome (OS, OMIM#308350, ORPHA1934) is an early-onset epilepticencephalopathy (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. PATIENT AND RESULTS: 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. CONCLUSION: 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.