NDLI: Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy

Please wait, while we are loading the content...

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy

Content Provider	Scilit
Author	Alsahli, Saud Al-Twaijri, Waleed Mutairi, Fuad Al
Copyright Year	2018
Description	Journal: Epilepsia Open Early onset epileptic encephalopathy (EOEE) has been used to encompass Ohtahara syndrome (early infantile epileptic encephalopathy [EIEE]), early myoclonic epilepsy, and many others. Multiple genes have been established to cause epileptic encephalopathy in the immature brain, and next‐generation sequencing has accelerated the process of novel gene discovery. Many of the previously published candidate genes are still pending confirmatory reports or functional studies. Although most of the genes involved are ion channels (channelopathies), multiple other pathways have been implicated as well. NECAP1 is a key element in clathrin‐mediated endocytosis and has been reported previously to cause EOEE in a Saudi family. We report another family with the same variant confirming the pathogenicity of this variant as a Saudi founder mutation, further delineate its phenotype, and propose that it causes EOEE instead of EIEE.
Related Links	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276780/pdf
Ending Page	527
Page Count	4
Starting Page	524
e-ISSN	24709239
DOI	10.1002/epi4.12263
Journal	Epilepsia Open
Issue Number	4
Volume Number	3
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2018-08-27
Access Restriction	Open
Subject Keyword	Journal: Epilepsia Open Early Onset Encephalopathy Early Onset Epileptic Encephalopathy Early Infantile Epileptic Encephalopathy Clathrin‐mediated Endocytosis
Content Type	Text
Resource Type	Article

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy

Infantile epileptic encephalopathy with late-onset spasms: Report of 19 patients

Cryptogenic Late-Onset Epileptic Spasms or Late Infantile Epileptogenic Encephalopathy?

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

Cryptogenic Late-onset Epileptic Spasms: An Overlooked Syndrome of Early Childhood?

Early-Onset Epileptic Encephalopathy with Phospholipase C Beta 1 Deficiency

Lidocaine-Dependent Early Infantile Epileptic Encephalopathy with Hyponatremia and Highly Suppressed EEG

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy

Similar Documents

Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy

Infantile epileptic encephalopathy with late-onset spasms: Report of 19 patients

Cryptogenic Late-Onset Epileptic Spasms or Late Infantile Epileptogenic Encephalopathy?

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

Cryptogenic Late-onset Epileptic Spasms: An Overlooked Syndrome of Early Childhood?

Early-Onset Epileptic Encephalopathy with Phospholipase C Beta 1 Deficiency

Lidocaine-Dependent Early Infantile Epileptic Encephalopathy with Hyponatremia and Highly Suppressed EEG

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy