Article
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
Journal of medical genetics - 1 Jan 2017
Schossig Anna, Bloch-Zupan Agnès, Lussi Adrian, Wolf Nicole I, Raskin Salmo, Cohen Monika, Giuliano Fabienne, Jurgens Julie, Krabichler Birgit, Koolen David A, de Macena Sobreira Nara Lygia, Maurer Elisabeth, Muller-Bolla Michèle, Penzien Johann, Zschocke Johannes, Kapferer-Seebacher Ines
Abstract excerpt
BACKGROUND: Kohlschütter-Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI. Here, we report on individuals with ROGDI-negative KTZS carrying biallelic SLC13A5 mutations. METHODS: In the present cohort study, nine individuals from four families with...
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