The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations-Reference-Cited by-同舟云学术

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The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations

Published:2016-08-24 Issue:10 Volume:57 Page:1651-1659
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Holder J. Lloyd¹,Quach Michael M.¹

Affiliation:

1. Baylor College of Medicine and Texas Children's Hospital; Houston Texas U.S.A.

Funder

Thrasher Research Fund

K08 Clinical Scientist Career Development Award

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.13506/fullpdf

Reference28 articles.

1. NINDS epilepsy and autism spectrum disorders workshop report;Tuchman;Neurology,2013

2. Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome;Sarasua;Hum Genet,2014

3. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency;Soorya;Mol Autism,2014

4. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH;Dhar;Am J Med Genet A,2010

5. 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay;Cusmano-Ozog;Am J Med Genet C Semin Med Genet,2007

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1. Developmental and epileptic encephalopathies;Nature Reviews Disease Primers;2024-09-05

2. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome;Journal of Neurodevelopmental Disorders;2024-05-10

3. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome;Clinical Genetics;2024-02-27

4. The Role of SHANK3 /PROSAP2 in the Pathophysiology of Autism Spectrum Disorder and Phelan–Mcdermid Syndrome;Encyclopedia of Life Sciences;2024-01-30

5. A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop;Therapeutic Advances in Rare Disease;2024-01

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