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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2.
Nat Genet. 2014.
PMID: 25362483
Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.
Winczewska-Wiktor A, Steinborn B, Lehman-Horn F, Biczysko W, Wiktor M, Gurda B, Jurkat-Rott K.
Winczewska-Wiktor A, et al. Among authors: lehman horn f.
Adv Med Sci. 2007;52 Suppl 1:155-7.
Adv Med Sci. 2007.
PMID: 18229654
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Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
Incecik F, Hergüner MO, Altunbaşak S, Lehman-Horn F.
Incecik F, et al. Among authors: lehman horn f.
Turk J Pediatr. 2010 Jul-Aug;52(4):409-10.
Turk J Pediatr. 2010.
PMID: 21043388
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