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gain-of-function mutations in voltage-gated sodium channel genes increase neuronal excitability and are associated with PDPN

Am J Med Genet C Semin Med Genet 142C(2):7785 Lund AM, Joensen F, Hougaard DM et al (2007) Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands
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Didangelos T, Karlafti E, Kotzakioulafi E, et al
