progressive myoclonus epilepsy

Literature (4)

Literature for DOID 891: progressive myoclonus epilepsy

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy., Muona M,Berkovic SF,Dibbens LM,Oliver KL,Maljevic S,Bayly MA,Joensuu T,Canafoglia L,Franceschetti S,Michelucci R,Markkinen S,Heron SE,Hildebrand MS,Andermann E,Andermann F,Gambardella A,Tinuper P,Licchetta L,Scheffer IE,Criscuolo C,Filla A,Ferlazzo E,Ahmad J,Ahmad A,Baykan B,Said E,Topcu M,Riguzzi P,King MD,Ozkara C,Andrade DM,Engelsen BA,Crespel A,Lindenau M,Lohmann E,Saletti V,Massano J,Privitera M,Espay AJ,Kauffmann B,Duchowny M,Møller RS,Straussberg R,Afawi Z,Ben-Zeev B,Samocha KE,Daly MJ,Petrou S,Lerche H,Palotie A,Lehesjoki AE, Nat Genet. January 1, 2015; 47(1):1546-1718.
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus., Piard J,Béreau M,XiangWei W,Wirth T,Amsallem D,Buisson L,Richard P,Liu N,Xu Y,Xu Y,Myers SJ,Traynelis SF,Chelly J,Anheim M,Raynaud M,Maldergem LV,Yuan H, Mov Disord. July 1, 2020; 35(7):1531-8257.
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.
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.

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

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus., Piard J,Béreau M,XiangWei W,Wirth T,Amsallem D,Buisson L,Richard P,Liu N,Xu Y,Xu Y,Myers SJ,Traynelis SF,Chelly J,Anheim M,Raynaud M,Maldergem LV,Yuan H, Mov Disord. July 1, 2020; 35(7):1531-8257.

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.

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.