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http://purl.uniprot.org/citations/24399846http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24399846http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24399846http://www.w3.org/2000/01/rdf-schema#comment"

Background

Epileptic encephalopathy is a broad clinical category that is highly heterogeneous genetically.

Objective

To describe a multiplex extended consanguineous family that defines a molecularly novel subtype of early infantile epileptic encephalopathy.

Methods

Autozygosity mapping and exome sequencing for the identification of the causal mutation. This was followed by expression analysis of the candidate gene.

Results

In an extended multigenerational family with six affected individuals, a single novel disease locus was identified on chromosome 12p13.31-p13.2. Within that locus, the only deleterious novel exomic variant was a homozygous truncating mutation in NECAP1, encoding a clathrin-accessory protein. The mutation was confirmed to trigger nonsense-mediated decay. Consistent with previous reports, we show that NECAP1 is highly enriched in the central nervous system.

Conclusions

NECAP1 is known to regulate clathrin-mediated endocytosis in synapses. The mutation we report here links for the first time this trafficking pathway in early infantile epileptic encephalopathy."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.org/dc/terms/identifier"doi:10.1136/jmedgenet-2013-102030"xsd:string
http://purl.uniprot.org/citations/24399846http://purl.org/dc/terms/identifier"doi:10.1136/jmedgenet-2013-102030"xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/author"Alkuraya F.S."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/author"Alkuraya F.S."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/author"Kentab A.Y."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/author"Kentab A.Y."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/author"Alazami A.M."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/author"Alazami A.M."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/author"Hijazi H."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/author"Hijazi H."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/name"J. Med. Genet."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/name"J. Med. Genet."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/pages"224-228"xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/pages"224-228"xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/title"NECAP1 loss of function leads to a severe infantile epileptic encephalopathy."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/title"NECAP1 loss of function leads to a severe infantile epileptic encephalopathy."xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/volume"51"xsd:string
http://purl.uniprot.org/citations/24399846http://purl.uniprot.org/core/volume"51"xsd:string
http://purl.uniprot.org/citations/24399846http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/24399846
http://purl.uniprot.org/citations/24399846http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/24399846
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