Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis-Reference-Cited by-同舟云学术

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Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis

Published:2018 Issue: Volume: Page:247-266
ISSN:2190-5215
Container-title:Advances in Neurobiology
language:
Short-container-title:

Author:

Gao Kai,Zhang Yujia,Zhang Ling,Kong Weijing,Xie Han,Wang Jingmin,Wu Ye,Wu Xiru,Liu Xiaoyan,Zhang Yuehua,Zhang Feng,Yu Albert Cheung-Hoi,Jiang Yuwu

Publisher

Springer International Publishing

Link

http://link.springer.com/content/pdf/10.1007/978-3-319-94593-4_9

Reference100 articles.

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2. Arai A, Saito T, Hanai S, Sukigara S, Nabatame S, Otsuki T, Nakagawa E, Takahashi A, Kaneko Y, Kaido T, Saito Y, Sugai K, Sasaki M, Goto Y, Itoh M. Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly. Brain Res. 2012;1470:89–97.

3. Barco A, Pittenger C, Kandel ER. CREB, memory enhancement and the treatment of memory disorders: promises, pitfalls and prospects. Expert Opin Ther Targets. 2003;7(1):101–14.

4. Barge-Schaapveld DQ, Ofman R, Knegt AC, Alders M, Hohne W, Kemp S, Hennekam RC. Intellectual disability and hemizygous GPD2 mutation. Am J Med Genet A. 2013;161A(5):1044–50.

5. Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. Am J Med Genet A. 2013;161A(7):1722–5.

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1. STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review;Genes;2023-10-10

2. Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review;Frontiers in Genetics;2023-06-06

3. Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up;BMC Medical Genomics;2023-04-03

4. Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?;Frontiers in Cell and Developmental Biology;2023-01-23

5. Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances;Genes;2022-05-12

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