Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy.
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy.
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DOI：
10.4274/balkanmedj.2017.0986
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发表时间：
2018-07-24
影响因子：
3
通讯作者：
Bayram Y
中科院分区：
文献类型：
--
作者：
Yeşil G;Aralaşmak A;Akyüz E;İçağasıoğlu D;Uygur Şahin T;Bayram Y
KCNMA1基因编码大电导、电压和钙敏感钾通道(BK通道)的α亚基，BK通道在神经元兴奋性中起关键作用。KCNMA1杂合突变首次在一个全面性癫痫和发作性非运动性运动障碍的大家族中被发现。最近的研究已经确定了KCNMA1纯合突变与小脑萎缩、发育迟缓和癫痫的表型有关。在这里，我们报告了一例KCNMA1(p.Arg458Ter)新的纯合子截断突变的患者，表现为发作性运动障碍、癫痫、智力迟缓和皮质脊髓-小脑束萎缩。这份报告扩展了KNCMA1突变表型，患者携带一种新的移码变体，表现出功能获得和丧失的表型，以及作为新的特征的椎管受累。
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. 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. 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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