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Comment
. 2015 Aug;88(2):137-9.
doi: 10.1111/cge.12615. Epub 2015 Jun 3.

Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy

B I Drögemöller  1
Affiliations
Comment

Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy

B I Drögemöller. Clin Genet. 2015 Aug.
No abstract available

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  • De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
    Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.

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