Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype-Reference-Cited by-同舟云学术

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

Published:2018-12-11 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gartner Valerie¹,Markello Thomas C.¹,Macnamara Ellen¹,De Biase Andrea²,Thurm Audrey³,Joseph Lisa³,Beggs Alan⁴,Schmahmann Jeremy D.⁵,Berry Gerard T.⁴,Anselm Irina⁶,Boslet Emma¹,Tifft Cynthia J.¹,Gahl William A.¹,Lee Paul R.¹⁷^ORCID

Affiliation:

1. Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health Bethesda Maryland

2. RainDance Technologies, Inc. Billerica Massachusetts

3. Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical DirectorNational Institute of Mental Health, National Institutes of Health Bethesda Maryland

4. Division of Genetics and Genomics, The Manton Center for Orphan Disease ResearchBoston Children's Hospital, Harvard Medical School Boston Massachusetts

5. Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of NeurologyMassachusetts General Hospital and Harvard Medical School Boston Massachusetts

6. Department of NeurologyBoston Children's Hospital and Harvard Medical School Boston Massachusetts

7. Division of Neurology Products, Center for Drug Evaluation and ResearchFood and Drug Administration Silver Spring Maryland

Funder

National Institutes of Health

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40628

Reference24 articles.

1. Ayhan F Ikeda Y Dalton JC Day JW Ranum LPW.2014. Spinocerebellar Ataxia Type 8.GeneReviews. Retrieved fromhttps://www.ncbi.nlm.nih.gov/books/NBK1268/

2. Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site;Bignone P. A.;Biochemical Journal,2003

3. Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain shank protein family interact with the cytoskeletal protein alpha‐fodrin;Böckers T. M.;Journal of Biological Chemistry,2001

4. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

5. Absence of fodrin (spectrin‐like protein) under the pseudopod membrane in stimulated thyroid cells;Gabrion J. B.;European Journal of Cell Biology,1990

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition;Brain;2023-04-03

3. Spectrins: molecular organizers and targets of neurological disorders;Nature Reviews Neuroscience;2023-01-25

4. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia;Genetics in Medicine;2023-01

5. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia;Movement Disorders;2022-02-12