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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Epilepsia. 2015 Dec;56(12):e203-8. doi: 10.1111/epi.13222. Epub 2015 Nov 5.
Epilepsia. 2015.
PMID: 26537434
Free article.
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA.
Møller RS, et al. Among authors: frangu m.
Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20.
Mol Syndromol. 2016.
PMID: 27781031
Free PMC article.
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[Epidermolysis bullosa simplex Dowling-Meara].
Frangu M, Gedde-Dahl T Jr, Verder H.
Frangu M, et al.
Ugeskr Laeger. 2006 Nov 27;168(48):4222-4.
Ugeskr Laeger. 2006.
PMID: 17147951
Danish.
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