myoclonic-atonic epilepsy

Literature (4)

Literature for DOID 0060475: myoclonic-atonic epilepsy

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

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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syrbe S,Nikanorova M,Myers CT,Larsen LH,Vejzovic S,Pendziwiat M,von Spiczak S,Hopkins S,Dubbs H,Mang Y,Mukhin K,Holthausen H,van Gassen KL,Dahl HA,Tommerup N,Mefford HC,Rubboli G,Guerrini R,Lemke JR,Lerche H,Muhle H,Maljevic S, Neurology. January 31, 2017; 88(5):1526-632X.
Functional genomics of epilepsy-associated mutations in the GABAA receptor subunits reveal that one mutation impairs function and two are catastrophic., Absalom NL,Ahring PK,Liao VW,Balle T,Jiang T,Anderson LL,Arnold JC,McGregor IS,Bowen MT,Chebib M, J Biol Chem. April 12, 2019; 294(15):1083-351X.
Characterization of the GABRB2-Associated Neurodevelopmental Disorders., El Achkar CM,Harrer M,Smith L,Kelly M,Iqbal S,Maljevic S,Niturad CE,Vissers LELM,Poduri A,Yang E,Lal D,Lerche H,Møller RS,Olson HE, Ann Neurol. March 1, 2021; 89(3):1531-8249.
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy., Bleakley LE,McKenzie CE,Soh MS,Forster IC,Pinares-Garcia P,Sedo A,Kathirvel A,Churilov L,Jancovski N,Maljevic S,Berkovic SF,Scheffer IE,Petrou S,Santoro B,Reid CA, Brain. August 17, 2021; 144(7):1460-2156.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syrbe S,Nikanorova M,Myers CT,Larsen LH,Vejzovic S,Pendziwiat M,von Spiczak S,Hopkins S,Dubbs H,Mang Y,Mukhin K,Holthausen H,van Gassen KL,Dahl HA,Tommerup N,Mefford HC,Rubboli G,Guerrini R,Lemke JR,Lerche H,Muhle H,Maljevic S, Neurology. January 31, 2017; 88(5):1526-632X.

Functional genomics of epilepsy-associated mutations in the GABAA receptor subunits reveal that one mutation impairs function and two are catastrophic., Absalom NL,Ahring PK,Liao VW,Balle T,Jiang T,Anderson LL,Arnold JC,McGregor IS,Bowen MT,Chebib M, J Biol Chem. April 12, 2019; 294(15):1083-351X.

Characterization of the GABRB2-Associated Neurodevelopmental Disorders., El Achkar CM,Harrer M,Smith L,Kelly M,Iqbal S,Maljevic S,Niturad CE,Vissers LELM,Poduri A,Yang E,Lal D,Lerche H,Møller RS,Olson HE, Ann Neurol. March 1, 2021; 89(3):1531-8249.

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy., Bleakley LE,McKenzie CE,Soh MS,Forster IC,Pinares-Garcia P,Sedo A,Kathirvel A,Churilov L,Jancovski N,Maljevic S,Berkovic SF,Scheffer IE,Petrou S,Santoro B,Reid CA, Brain. August 17, 2021; 144(7):1460-2156.