A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 View Full Text


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Article Info

DATE

2019-01-09

AUTHORS

Takeshi Mizuguchi, Mitsuko Nakashima, Lip H. Moey, Gaik S. Ch’ng, Teik-Beng Khoo, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto

ABSTRACT

We report the second case of early infantile epileptic encephalopathy (EIEE) arising from a homozygous truncating variant of NECAP1. The boy developed infantile-onset tonic-clonic and tonic seizures, then spasms in clusters. His electroencephalogram (EEG) showed a burst suppression pattern, leading to the diagnosis of Ohtahara syndrome. Whole-exome sequencing revealed the canonical splice-site variant (c.301 + 1 G > A) in NECAP1. In rodents, Necap1 protein is enriched in neuronal clathrin-coated vesicles and modulates synaptic vesicle recycling. cDNA analysis confirmed abnormal splicing that produced early truncating mRNA. There has been only one previous report of a mutation in NECAP1 in a family with EIEE; this was a nonsense mutation (p.R48*) that was cited as EIEE21. Decreased mRNA levels and the loss of the WXXF motif in both the families suggests that loss of NECAP1 function is a common pathomechanism for EIEE21. This study provided additional support that synaptic vesicle recycling plays a key role in epileptogenesis. More... »

PAGES

347-350

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URI

http://scigraph.springernature.com/pub.10.1038/s10038-018-0556-2

DOI

http://dx.doi.org/10.1038/s10038-018-0556-2

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https://app.dimensions.ai/details/publication/pub.1111264161

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30626896


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