Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome-Reference-Cited by-同舟云学术

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

Published:2015-04-25 Issue:9 Volume:167 Page:2017-2025
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Olson Heather E.¹²³⁴,Tambunan Dimira¹,LaCoursiere Christopher¹,Goldenberg Marti⁴,Pinsky Rebecca¹,Martin Emilie¹,Ho Eugenia⁴⁵,Khwaja Omar³⁴⁵,Kaufmann Walter E.²³⁴⁵,Poduri Annapurna¹²³⁴⁶

Affiliation:

1. Epilepsy Genetics Program; Division of Epilepsy & Clinical Neurophysiology; Boston Children's Hospital; Boston Massachusetts

2. Harvard Medical School; Boston Massachusetts

3. Neurogenetics Program; Boston Children's Hospital; Boston Massachusetts

4. Department of Neurology; Boston Children's Hospital; Boston Massachusetts

5. Rett Syndrome Program; Boston Children's Hospital; Boston Massachusetts

6. F. M. Kirby Neurobiology Center; Boston Children's Hospital; Boston Massachusetts

Funder

Intellectual And Developmental Disabilities Research Center

Dravet Syndrome Foundation

NICHD

International Rett Syndrome Foundation

NINDS

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37132/fullpdf

Reference38 articles.

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2. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders;Campbell;Am J Hum Genet,2014

3. Identification of MeCP2 mutations in a series of females with autistic disorder;Carney;Pediatr Neurol,2003

4. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1;Carvill;Nat Genet,2013

5. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations;Deprez;Neurology,2010

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