A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

作者：Barcia G; Barnerias C; Rio M; Siquier Pernet K; Desguerre I; Colleaux L; Munnich A; Rotig A; Nabbout R^*

来源：European Journal of Medical Genetics, 2013, 56(12): 683-685.

DOI：10.1016/j.ejmg.2013.09.013

• STXBP1
• Early epilepsy mental retardation
• Respiratory chain deficit
• Complex IV

STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in a few patients with nonsyndromic mental retardation without epilepsy. %26lt;br%26gt;We report a patient who presented late onset infantile spasms. Epilepsy was controlled but the patient developed severe mental delay. A first diagnosis of mitochondrial disease was based on clinical presentation and on a partial deficit of respiratory chain complex IV, but molecular screening for mitochondrial genes was negative. The sequencing of STXBP1 gene found a de novo nonsense mutation (c.585C%26gt;G/p.Tyr195X). %26lt;br%26gt;This observation widens the clinical spectrum linked to STXBP1 mutations with the description of a patient with late onset infantile spasms. It raises the question of the value of epilepsy genes screening in patients with uncertain, partial or unconfirmed mitochondrial dysfunction.

• 出版日期2013-12
• 单位中国地震局