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

BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paro...

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Autores principales: Yeşil, Gözde, Aralaşmak, Ayşe, Akyüz, Enes, İçağasıoğlu, Dilara, Uygur Şahin, Türkan, Bayram, Yavuz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060973/
https://www.ncbi.nlm.nih.gov/pubmed/29545233
http://dx.doi.org/10.4274/balkanmedj.2017.0986
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author Yeşil, Gözde
Aralaşmak, Ayşe
Akyüz, Enes
İçağasıoğlu, Dilara
Uygur Şahin, Türkan
Bayram, Yavuz
author_facet Yeşil, Gözde
Aralaşmak, Ayşe
Akyüz, Enes
İçağasıoğlu, Dilara
Uygur Şahin, Türkan
Bayram, Yavuz
author_sort Yeşil, Gözde
collection PubMed
description BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures. CASE REPORT: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy. CONCLUSION: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic.
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spelling pubmed-60609732018-07-27 Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy Yeşil, Gözde Aralaşmak, Ayşe Akyüz, Enes İçağasıoğlu, Dilara Uygur Şahin, Türkan Bayram, Yavuz Balkan Med J Case Report BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures. CASE REPORT: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy. CONCLUSION: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic. Galenos Publishing 2018-07 2018-07-24 /pmc/articles/PMC6060973/ /pubmed/29545233 http://dx.doi.org/10.4274/balkanmedj.2017.0986 Text en © Copyright 2018 by Trakya University Faculty of Medicine http://creativecommons.org/licenses/by/2.5/ The Balkan Medical Journal published by Galenos Publishing House.
spellingShingle Case Report
Yeşil, Gözde
Aralaşmak, Ayşe
Akyüz, Enes
İçağasıoğlu, Dilara
Uygur Şahin, Türkan
Bayram, Yavuz
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
title Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
title_full Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
title_fullStr Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
title_full_unstemmed Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
title_short Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
title_sort expanding the phenotype of homozygous kcnma1 mutations; dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060973/
https://www.ncbi.nlm.nih.gov/pubmed/29545233
http://dx.doi.org/10.4274/balkanmedj.2017.0986
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