Skip to search form
Skip to main content
>
Semantic Scholar
Semantic Scholar's Logo
Search
Sign In
Create Free Account
You are currently offline. Some features of the site may not work correctly.
NECAP1 gene
Known as:
NECAP endocytosis associated 1
, DKFZP566B183
, NECAP1
Expand
National Institutes of Health
Create Alert
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration
Rebekkah J. Hitti
,
J. Oliver
,
+8 authors
C. Mellersh
Genes
2019
Corpus ID: 162181165
Canine progressive retinal atrophies (PRA) are genetically heterogeneous diseases characterized by retinal degeneration and…
Expand
2019
2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21
T. Mizuguchi
,
M. Nakashima
,
+8 authors
N. Matsumoto
Journal of Human Genetics
2019
Corpus ID: 58005103
We report the second case of early infantile epileptic encephalopathy (EIEE) arising from a homozygous truncating variant of…
Expand
2018
2018
Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy
S. Alsahli
,
W. Altwaijri
,
F. Al Mutairi
Epilepsia open
2018
Corpus ID: 54447629
Early onset epileptic encephalopathy (EOEE) has been used to encompass Ohtahara syndrome (early infantile epileptic…
Expand
2014
2014
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
A. Alazami
,
H. Hijazi
,
A. Kentab
,
F. Alkuraya
Journal of Medical Genetics
2014
Corpus ID: 28281380
Background Epileptic encephalopathy is a broad clinical category that is highly heterogeneous genetically. Objective To describe…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
,
Terms of Service
, and
Dataset License
ACCEPT & CONTINUE