A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.
Eur J Med Genet
; 56(12): 683-5, 2013 Dec.
Article
in En
| MEDLINE
| ID: mdl-24095819
ABSTRACT
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. 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>G/p.Tyr195X). 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spasms, Infantile
/
Electron Transport Complex IV
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Codon, Nonsense
/
Munc18 Proteins
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Intellectual Disability
Type of study:
Diagnostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Eur J Med Genet
Journal subject:
GENETICA MEDICA
Year:
2013
Document type:
Article
Affiliation country: