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

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dc.contributor.authorİÇAĞASIOĞLU, DİLARA FÜSUN
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.contributor.institutionauthorARALAŞMAK, AYŞE
dc.contributor.institutionauthorAKYÜZ, ENES
dc.contributor.institutionauthorİÇAĞASIOĞLU, DİLARA FÜSUN
dc.date.accessioned2019-10-05T21:17:38Z
dc.date.available2019-10-05T21:17:38Z
dc.date.issued2018-07-01
dc.description.abstractBackground: 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.en
dc.identifier
dc.identifier.citationİÇAĞASIOĞLU D. F. , -Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy-, BALKAN MEDICAL JOURNAL, cilt.35, ss.336-339, 2018
dc.identifier.doi10.4274/balkanmedj.2017.0986
dc.identifier.pubmed29545233
dc.identifier.scopus85047377009
dc.identifier.trdizinDOI: https://doi.org/10.4274/balkanmedj.2017.0986
dc.identifier.trdizinhttps://doi.org/10.4274/balkanmedj.2017.0986
dc.identifier.trdizintrdizin
dc.identifier.urihttps://hdl.handle.net/20.500.12645/6991
dc.identifier.wosWOS:000439486200008
dc.language.isoen
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.titleExpanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
dc.typeArticle
dspace.entity.typePublication
local.article.journalnameAvrasya Terim Dergisi
local.avesis.idae984ab1-834e-43df-8aa7-01ade9744ec0
local.avesis.response6867
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication916dd84c-0db6-43c4-8168-c6c875f27bbe
relation.isAuthorOfPublication6a463e8f-3227-4821-9a3c-9430310fc671
relation.isAuthorOfPublicationd6e0d341-df58-438f-bfac-96639f63d5d3
relation.isAuthorOfPublication.latestForDiscovery916dd84c-0db6-43c4-8168-c6c875f27bbe
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