idiopathic generalized epilepsy

Literature (10)

Literature for DOID 1827: idiopathic generalized epilepsy

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

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Mutations linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL,Bianchi MT,Bianch MT,Feng H, Exp Neurol. November 1, 2003; 184 Suppl 1:0014-4886.
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1., Meadows LS,Malhotra J,Loukas A,Thyagarajan V,Kazen-Gillespie KA,Koopman MC,Kriegler S,Isom LL,Ragsdale DS, J Neurosci. December 15, 2002; 22(24):1529-2401.
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy., Edvardson S,Oz S,Abulhijaa FA,Taher FB,Shaag A,Zenvirt S,Dascal N,Elpeleg O, J Med Genet. February 1, 2013; 50(2):1468-6244.
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy., Lemke JR,Hendrickx R,Geider K,Laube B,Schwake M,Harvey RJ,James VM,Pepler A,Steiner I,Hörtnagel K,Neidhardt J,Ruf S,Wolff M,Bartholdi D,Caraballo R,Platzer K,Suls A,De Jonghe P,Biskup S,Weckhuysen S, Ann Neurol. January 1, 2014; 75(1):1531-8249.
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.
Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I., Maghera J,Li J,Lamothe SM,Braun M,Appendino JP,Au PYB,Kurata HT, Epilepsia Open. December 1, 2020; 5(4):2470-9239.
Differential Coassembly of α1-GABAARs Associated with Epileptic Encephalopathy., Hannan S,Affandi AHB,Minere M,Jones C,Goh P,Warnes G,Popp B,Trollmann R,Nizetic D,Smart TG, J Neurosci. July 15, 2020; 40(29):1529-2401.
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 linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL,Bianchi MT,Bianch MT,Feng H, Exp Neurol. November 1, 2003; 184 Suppl 1:0014-4886.

Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1., Meadows LS,Malhotra J,Loukas A,Thyagarajan V,Kazen-Gillespie KA,Koopman MC,Kriegler S,Isom LL,Ragsdale DS, J Neurosci. December 15, 2002; 22(24):1529-2401.

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy., Edvardson S,Oz S,Abulhijaa FA,Taher FB,Shaag A,Zenvirt S,Dascal N,Elpeleg O, J Med Genet. February 1, 2013; 50(2):1468-6244.

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy., Lemke JR,Hendrickx R,Geider K,Laube B,Schwake M,Harvey RJ,James VM,Pepler A,Steiner I,Hörtnagel K,Neidhardt J,Ruf S,Wolff M,Bartholdi D,Caraballo R,Platzer K,Suls A,De Jonghe P,Biskup S,Weckhuysen S, Ann Neurol. January 1, 2014; 75(1):1531-8249.

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.

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I., Maghera J,Li J,Lamothe SM,Braun M,Appendino JP,Au PYB,Kurata HT, Epilepsia Open. December 1, 2020; 5(4):2470-9239.

Differential Coassembly of α1-GABAARs Associated with Epileptic Encephalopathy., Hannan S,Affandi AHB,Minere M,Jones C,Goh P,Warnes G,Popp B,Trollmann R,Nizetic D,Smart TG, J Neurosci. July 15, 2020; 40(29):1529-2401.

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.