De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature

Natalie L. Ullman; Constance Leonie Smith-Hicks; Sonal Desai; Carl Stafstrom

doi:10.1016/j.pediatrneurol.2018.03.005

De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature

Natalie L. Ullman, Constance Leonie Smith-Hicks, Sonal Desai, Carl Stafstrom

Research output: Contribution to journal › Article

Original language	English (US)
Journal	Pediatric Neurology
DOIs	https://doi.org/10.1016/j.pediatrneurol.2018.03.005
State	Accepted/In press - Jan 1 2018

Keywords

Epilepsy
Epileptic encephalopathy
HECW2
Whole exome sequencing

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Developmental Neuroscience
Clinical Neurology

Cite this

Ullman, N. L., Smith-Hicks, C. L., Desai, S., & Stafstrom, C. (Accepted/In press). De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature. Pediatric Neurology. https://doi.org/10.1016/j.pediatrneurol.2018.03.005

@article{bdfda3bae9f7471da55c5d92b2b8667f,

title = "De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature",

keywords = "Epilepsy, Epileptic encephalopathy, HECW2, Whole exome sequencing",

author = "Ullman, {Natalie L.} and Smith-Hicks, {Constance Leonie} and Sonal Desai and Carl Stafstrom",

year = "2018",

month = jan

day = "1",

doi = "10.1016/j.pediatrneurol.2018.03.005",

language = "English (US)",

journal = "Pediatric Neurology",

issn = "0887-8994",

publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability

T2 - Case Report and Review of Literature

AU - Ullman, Natalie L.

AU - Smith-Hicks, Constance Leonie

AU - Desai, Sonal

AU - Stafstrom, Carl

PY - 2018/1/1

Y1 - 2018/1/1

KW - Epilepsy

KW - Epileptic encephalopathy

KW - HECW2

KW - Whole exome sequencing

UR - http://www.scopus.com/inward/record.url?scp=85047414225&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85047414225&partnerID=8YFLogxK

U2 - 10.1016/j.pediatrneurol.2018.03.005

DO - 10.1016/j.pediatrneurol.2018.03.005

M3 - Article

C2 - 29807643

AN - SCOPUS:85047414225

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

ER -

Access to Document

10.1016/j.pediatrneurol.2018.03.005