Critical roles of αII spectrin in brain development and epileptic encephalopathy-Reference-Cited by-同舟云学术

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Critical roles of αII spectrin in brain development and epileptic encephalopathy

Published:2018-01-16 Issue:2 Volume:128 Page:760-773
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Wang Yu,Ji Tuo,Nelson Andrew D.,Glanowska Katarzyna,Murphy Geoffrey G.,Jenkins Paul M.,Parent Jack M.

Funder

NIH

Pediatric Epilepsy Research Foundation

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/95743/files/pdf

Reference51 articles.

1. De novo mutations in epileptic encephalopathies

2. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

3. Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

4. SPTAN1 encephalopathy: distinct phenotypes and genotypes

5. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

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1. SPTAN1/NUMB axis senses cell density to restrain cell growth and oncogenesis through Hippo signaling;Journal of Clinical Investigation;2023-10-16

2. <i>SPTAN1</i>-associated developmental and epileptic encephalopathy;Epilepsy and paroxysmal conditions;2023-09-26

3. iASPP regulates neurite development by interacting with Spectrin proteins;Frontiers in Molecular Neuroscience;2023-05-22

4. Contribution of Axon Initial Segment Structure and Channels to Brain Pathology;Cells;2023-04-21

5. Clinical significance of nonerythrocytic spectrin Beta 1 (SPTBN1) in human kidney renal clear cell carcinoma and uveal melanoma: a study based on Pan-Cancer Analysis;BMC Cancer;2023-04-03

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