EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7

Literature (2)

Literature for OMIM 616187: EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy., Muona M,Berkovic SF,Dibbens LM,Maljevic S,Bayly MA,Joensuu T,Franceschetti S,Michelucci R,Markkinen S,Hildebrand MS,Andermann E,Andermann F,Gambardella A,Tinuper P,Scheffer IE,Criscuolo C,Filla A,Ahmad J,Ahmad A,Baykan B,Topcu M,Riguzzi P,King MD,Andrade DM,Engelsen BA,Crespel A,Lohmann E,Saletti V,Massano J,Privitera M,Kauffmann B,Duchowny M,Møller RS,Afawi Z,Ben-Zeev B,Samocha KE,Petrou S,Lerche H,Palotie A,Oliver KL,Canafoglia L,Heron SE,Licchetta L,Ferlazzo E,Said E,Ozkara C,Lindenau M,Espay AJ,Straussberg R,Daly MJ,Lehesjoki AE, Nat Genet. January 1, 2015; 47(1):1546-1718.
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy., Muona M,Berkovic SF,Dibbens LM,Maljevic S,Bayly MA,Joensuu T,Franceschetti S,Michelucci R,Markkinen S,Hildebrand MS,Andermann E,Andermann F,Gambardella A,Tinuper P,Scheffer IE,Criscuolo C,Filla A,Ahmad J,Ahmad A,Baykan B,Topcu M,Riguzzi P,King MD,Andrade DM,Engelsen BA,Crespel A,Lohmann E,Saletti V,Massano J,Privitera M,Kauffmann B,Duchowny M,Møller RS,Afawi Z,Ben-Zeev B,Samocha KE,Petrou S,Lerche H,Palotie A,Oliver KL,Canafoglia L,Heron SE,Licchetta L,Ferlazzo E,Said E,Ozkara C,Lindenau M,Espay AJ,Straussberg R,Daly MJ,Lehesjoki AE, Nat Genet. January 1, 2015; 47(1):1546-1718.

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.