RGD Reference Report - Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. - Rat Genome Database

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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

Authors: Deprez, L  Weckhuysen, S  Holmgren, P  Suls, A  Van Dyck, T  Goossens, D  Del-Favero, J  Jansen, A  Verhaert, K  Lagae, L  Jordanova, A  Van Coster, R  Yendle, S  Berkovic, SF  Scheffer, I  Ceulemans, B  De Jonghe, P 
Citation: Deprez L, etal., Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.
RGD ID: 11068998
Pubmed: (View Article at PubMed) PMID:20876469
DOI: Full-text: DOI:10.1212/WNL.0b013e3181f4d7bf

OBJECTIVES: Heterozygous mutations in STXBP1, encoding the syntaxin binding protein 1, have recently been identified in Ohtahara syndrome, an epileptic encephalopathy with very early onset. In order to explore the phenotypic spectrum associated with STXBP1 mutations, we analyzed a cohort of patients with unexplained early-onset epileptic encephalopathies. METHODS: We collected and clinically characterized 106 patients with early-onset epileptic encephalopathies. Mutation analysis of the STXBP1 gene was done using sequence analysis of the exon and intron-exon boundaries and multiplex amplification quantification to detect copy number variations. RESULTS: We identified 4 truncating mutations and 2 microdeletions partially affecting STXBP1 in 6 of the 106 patients. All mutations are predicted to abolish STXBP1 function and 5 mutations were proven to occur de novo. None of the mutation-carrying patients had Ohtahara syndrome. One patient was diagnosed with West syndrome at disease onset, while the initial phenotype of 5 further patients did not fit into a specific recognized epilepsy syndrome. Three of these patients later evolved to West syndrome. All patients had severe to profound mental retardation, and ataxia or dyskinetic movements were present in 5 patients. CONCLUSION: This study shows that mutations in STXBP1 are not limited to patients with Ohtahara syndrome, but are also present in 10% (5/49) of patients with an early-onset epileptic encephalopathy that does not fit into either Ohtahara or West syndrome and rarely in typical West syndrome. STXBP1 mutational analysis should be considered in the diagnostic evaluation of this challenging group of patients.


Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Stxbp1  (syntaxin binding protein 1)

Genes (Mus musculus)
Stxbp1  (syntaxin binding protein 1)

Genes (Homo sapiens)
STXBP1  (syntaxin binding protein 1)

Additional Information