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

详细信息    查看全文

• 作者：L. Ortega-Moreno^a ; ^b ; B.G. Girá ; ldez^a ; ^b ; A. Verdú ; ^c ; O. Garcí ; a-Campos^c ; G. Sá ; nchez-Martí ; n^a ; ^b ; J.M. Serratosa^a ; ^b ; ^{joseserratosa@me.com" class="auth_mail" title="E-mail the corresponding author} ; R. Guerrero-Ló ; pez^a ; ^b
• 关键词：Clinical genetics ; Early-onset epileptic encephalopathy ; Epilepsy ; Ohtahara syndrome ; STXBP1
• 刊名：Neurología (English Edition)
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：31
• 期：8
• 页码：523-527
• 全文大小：787 K

文摘

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

10">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

15">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.