Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy-Reference-Cited by-同舟云学术

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy

Published:2018-11-12 Issue:4 Volume:3 Page:524-527
ISSN:2470-9239
Container-title:Epilepsia Open
language:en
Short-container-title:Epilepsia Open

Author:

Alsahli Saud¹²³^ORCID,Al-Twaijri Waleed¹²³,Al Mutairi Fuad²³⁴

Affiliation:

1. Division of Pediatric Neurology; Department of Pediatrics; King Abdulaziz Medical City; Ministry of National Guard-Health Affairs (MNGHA); Riyadh Saudi Arabia

2. King Abdullah International Medical Research Center (KAIMRC); Riyadh Saudi Arabia

3. College of Medicine; King Saud bin Abdulaziz University for Health Sciences; Riyadh Saudi Arabia

4. Division of Genetics; Department of Pediatrics; King Abdulaziz Medical City; Ministry of National Guard-Health Affairs (MNGHA); Riyadh Saudi Arabia

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/epi4.12263/fullpdf

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3. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients;Kovel;Mol Genet Genomic Med,2016

4. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies;EuroEPINOMICS-RES Consortium;Am J Hum Genet,2014

5. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy;Alazami;J Med Genet,2014

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