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

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

Research output: Contribution to journal › Article › peer-review

Original language	English (US)
Pages (from-to)	76-78
Number of pages	3
Journal	Pediatric Neurology
Volume	85
DOIs	https://doi.org/10.1016/j.pediatrneurol.2018.03.005
State	Published - Aug 2018

Keywords

Epilepsy
Epileptic encephalopathy
HECW2
Whole exome sequencing

ASJC Scopus subject areas

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

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10.1016/j.pediatrneurol.2018.03.005

Cite this

@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 L.} and Sonal Desai and Stafstrom, {Carl E.}",

year = "2018",

month = aug,

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

language = "English (US)",

volume = "85",

pages = "76--78",

journal = "Pediatric Neurology",

issn = "0887-8994",

publisher = "Elsevier Inc.",

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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 L.

AU - Desai, Sonal

AU - Stafstrom, Carl E.

PY - 2018/8

Y1 - 2018/8

KW - Epilepsy

KW - Epileptic encephalopathy

KW - HECW2

KW - Whole exome sequencing

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U2 - 10.1016/j.pediatrneurol.2018.03.005

DO - 10.1016/j.pediatrneurol.2018.03.005

M3 - Article

C2 - 29807643

AN - SCOPUS:85047414225

VL - 85

SP - 76

EP - 78

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

ER -

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

Keywords

ASJC Scopus subject areas

Access to Document

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