Functional characterization of <i>KCNMA1</i> mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy-Reference-Cited by-同舟云学术

Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy

Published:2023-06-07 Issue: Volume: Page:1-6
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Yucesan Emrah¹^ORCID,Goncu Beyza²³^ORCID,Ozgul Cemil⁴^ORCID,Kebapci Arda⁴^ORCID,Aslanger Ayca Dilruba⁵^ORCID,Akyuz Enes⁶^ORCID,Yesil Gozde⁵^ORCID

Affiliation:

1. Department of Neurogenetics, Institute of Neurological Sciences, Istanbul University-Cerrahpasa, Istanbul, Turkey

2. Department of Medical Services and Techniques, Vocational School of Health Services, Bezmialem Vakif University, Istanbul, Turkey

3. Experimental Research Center, Bezmialem Vakif University, Istanbul, Turkey

4. Regenerative and Restorative Medicine Research Center (REMER), Research Institute for Health Sciences and Technologies (SABITA, Istanbul Medipol University, Istanbul, Turkey);

5. Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey

6. Department of Biophysics, Faculty of International Medicine, University of Health Sciences, Istanbul, Turkey

Funder

Bezmialem Vakıf Üniversitesi

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2023.2221814

Reference28 articles.

1. Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

2. Cloning and expression of a human large-conductance calcium-activated potassium channel

3. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

4. LRRC26 auxiliary protein allows BK channel activation at resting voltage without calcium

5. BK potassium channel modulation by leucine-rich repeat-containing proteins

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