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Neurologia. 2016 Oct;31(8):523-7. doi: 10.1016/j.nrl.2014.10.017. Epub 2015 Jan 24.

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

[Article in English, Spanish]

Author information

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.

KEYWORDS:

Clinical genetics; Early-onset epileptic encephalopathy; Encefalopatía epiléptica de inicio precoz; Epilepsia; Epilepsy; Genética clínica; Ohtahara syndrome; STXBP1; Síndrome de Ohtahara

PMID:
25631041
DOI:
10.1016/j.nrl.2014.10.017
[Indexed for MEDLINE]
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