Person: AKYÜZ, ENES
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Publication Metadata only Follow up four cerebrotendinous xanthomatosis patients importance of early diagnosis and treatment.(2017-05-30) DUMAN, NİLGÜN; AKYÜZ, ENES; GEÇKİNLİ, BİLGEN BİLGE; ZUBARİOĞLU, T; YEŞİL, GÖZDE; DUMAN, NİLGÜN; AKYÜZ, ENES; YEŞİL, GÖZDEPublication Metadata only Change of ST segment in ECG recording and its relation with potassium channels in experimental epilepsy model induced in rats(2017-03-03) AKYÜZ, ENES; MEGA TİBER, PINAR; YEŞİL, GÖZDE; AKYÜZ, ENES; YEŞİL, GÖZDEPublication Metadata only Deneysel epilepsi modelinde kalpte bulunan içeri doğrultucu potasyum kanallarının gen ekspresyonlarının incelenmesi(2016-09-09) AKYÜZ, ENES; AKBAŞ, FAHRİ; ERCAN, ÇİLEM; YEŞİL, GÖZDE; AKYÜZ, ENES; AKBAŞ, FAHRİ; ERCAN, ÇİLEM; YEŞİL, GÖZDEPublication Open Access Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy(2018-07-01) İÇAĞASIOĞLU, DİLARA FÜSUN; YEŞİL, GÖZDE; ARALAŞMAK, AYŞE; AKYÜZ, ENES; İÇAĞASIOĞLU, DİLARA FÜSUNBackground: 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.