Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.

Autor: Cebeci D; Faculty of Medicine, Department of Pediatric Neurology, Gazi University, Ankara, Turkey., Cavdarli B; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey., Ozbudak P; Faculty of Medicine, Department of Pediatric Neurology, Gazi University, Ankara, Turkey., Arhan E; Faculty of Medicine, Department of Pediatric Neurology, Gazi University, Ankara, Turkey., Gucuyener K; Faculty of Medicine, Department of Pediatric Neurology, Gazi University, Ankara, Turkey., Demir E; Faculty of Medicine, Department of Pediatric Neurology, Gazi University, Ankara, Turkey.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct 15, pp. e63909. Date of Electronic Publication: 2024 Oct 15.

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Successful treatment with anakinra in generalized spiculated porokeratosis and severe hidradenitis suppurativa in a patient with MVK and MEFV mutations.

Autor: Oktem A; Department of Dermatology, Faculty of Medicine, Ankara University, Ankara, Turkiye., Rasulova G; Department of Dermatology, Faculty of Medicine, Koc University, İstanbul, Turkiye., Cavdarli B; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkiye., Bostanci S; Department of Dermatology, Faculty of Medicine, Ankara University, Ankara, Turkiye., Heper A; Department of Pathology, Faculty of Medicine, Ankara University, Ankara, Turkiye., Vural S; Department of Dermatology, Faculty of Medicine, Koc University, İstanbul, Turkiye.

Publikováno v: Clinical and experimental dermatology [Clin Exp Dermatol] 2023 Feb 02; Vol. 48 (2), pp. 161-165.

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