129 related articles for article (PubMed ID: 29064616)
1. Gain-of-function HCN2 variants in genetic epilepsy.
Li M; Maljevic S; Phillips AM; Petrovski S; Hildebrand MS; Burgess R; Mount T; Zara F; Striano P; Schubert J; Thiele H; Nürnberg P; Wong M; Weisenberg JL; Thio LL; Lerche H; Scheffer IE; Berkovic SF; Petrou S; Reid CA
Hum Mutat; 2018 Feb; 39(2):202-209. PubMed ID: 29064616
[TBL] [Abstract][Full Text] [Related]
2. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C; Porro A; Rastetter A; Dalle C; Rivolta I; Bauer D; Oegema R; Nava C; Parrini E; Mei D; Mercer C; Dhamija R; Chambers C; Coubes C; Thévenon J; Kuentz P; Julia S; Pasquier L; Dubourg C; Carré W; Rosati A; Melani F; Pisano T; Giardino M; Innes AM; Alembik Y; Scheidecker S; Santos M; Figueiroa S; Garrido C; Fusco C; Frattini D; Spagnoli C; Binda A; Granata T; Ragona F; Freri E; Franceschetti S; Canafoglia L; Castellotti B; Gellera C; Milanesi R; Mancardi MM; Clark DR; Kok F; Helbig KL; Ichikawa S; Sadler L; Neupauerová J; Laššuthova P; Šterbová K; Laridon A; Brilstra E; Koeleman B; Lemke JR; Zara F; Striano P; Soblet J; Smits G; Deconinck N; Barbuti A; DiFrancesco D; LeGuern E; Guerrini R; Santoro B; Hamacher K; Thiel G; Moroni A; DiFrancesco JC; Depienne C
Brain; 2018 Nov; 141(11):3160-3178. PubMed ID: 30351409
[TBL] [Abstract][Full Text] [Related]
3. Functional variants in
Becker F; Reid CA; Hallmann K; Tae HS; Phillips AM; Teodorescu G; Weber YG; Kleefuss-Lie A; Elger C; Perez-Reyes E; Petrou S; Kunz WS; Lerche H; Maljevic S
Epilepsia Open; 2017 Sep; 2(3):334-342. PubMed ID: 29588962
[TBL] [Abstract][Full Text] [Related]
4. Case-control pharmacogenetic study of HCN1/HCN2 variants and genetic generalized epilepsies.
Wu SZ; Ye H; Yang XG; Lu ZL; Qu Q; Qu J
Clin Exp Pharmacol Physiol; 2018 Mar; 45(3):226-233. PubMed ID: 29047147
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.
Tang B; Sander T; Craven KB; Hempelmann A; Escayg A
Neurobiol Dis; 2008 Jan; 29(1):59-70. PubMed ID: 17931874
[TBL] [Abstract][Full Text] [Related]
6. Decreased Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel 2 Activity in a Rat Model of Absence Epilepsy and the Effect of ZD7288, an Ih Inhibitor, on the Spike-and-Wave Discharges.
Yavuz M; Aydın B; Çarçak N; Onat F
Pharmacology; 2022; 107(3-4):227-234. PubMed ID: 35008085
[TBL] [Abstract][Full Text] [Related]
7. A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.
Bonzanni M; DiFrancesco JC; Milanesi R; Campostrini G; Castellotti B; Bucchi A; Baruscotti M; Ferrarese C; Franceschetti S; Canafoglia L; Ragona F; Freri E; Labate A; Gambardella A; Costa C; Rivolta I; Gellera C; Granata T; Barbuti A; DiFrancesco D
Neurobiol Dis; 2018 Oct; 118():55-63. PubMed ID: 29936235
[TBL] [Abstract][Full Text] [Related]
8. Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.
Chan CK; Low JS; Lim KS; Low SK; Tan CT; Ng CC
Neurol Sci; 2020 Mar; 41(3):591-598. PubMed ID: 31720899
[TBL] [Abstract][Full Text] [Related]
9. Spike-and-wave discharge mediated reduction in hippocampal HCN1 channel function associates with learning deficits in a genetic mouse model of epilepsy.
Phillips AM; Kim T; Vargas E; Petrou S; Reid CA
Neurobiol Dis; 2014 Apr; 64():30-5. PubMed ID: 24368169
[TBL] [Abstract][Full Text] [Related]
10. Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.
Landoulsi Z; Laatar F; Noé E; Mrabet S; Ben Djebara M; Achaz G; Nava C; Baulac S; Kacem I; Gargouri-Berrechid A; Gouider R; Leguern E
Neurogenetics; 2018 Aug; 19(3):165-178. PubMed ID: 29948376
[TBL] [Abstract][Full Text] [Related]
11. Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.
Nakamura Y; Shi X; Numata T; Mori Y; Inoue R; Lossin C; Baram TZ; Hirose S
PLoS One; 2013; 8(12):e80376. PubMed ID: 24324597
[TBL] [Abstract][Full Text] [Related]
12. Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
Lee CG; Lee J; Lee M
PLoS One; 2018; 13(6):e0199321. PubMed ID: 29924869
[TBL] [Abstract][Full Text] [Related]
13. A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
DiFrancesco JC; Ragona F; Murano C; Frosio A; Melgari D; Binda A; Calamaio S; Prevostini R; Mauri M; Canafoglia L; Castellotti B; Messina G; Gellera C; Previtali R; Veggiotti P; Milanesi R; Barbuti A; Solazzi R; Freri E; Granata T; Rivolta I
Epilepsia; 2023 Dec; 64(12):e222-e228. PubMed ID: 37746765
[TBL] [Abstract][Full Text] [Related]
14. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G; Lesca G; Mehrjouy MM; Labalme A; Salmi M; Bache I; Bruneau N; Pendziwiat M; Fluss J; de Bellescize J; Scholly J; Møller RS; Craiu D; Tommerup N; Valenti-Hirsch MP; Schluth-Bolard C; Sloan-Béna F; Helbig KL; Weckhuysen S; Edery P; Coulbaut S; Abbas M; Scheffer IE; Tang S; Myers CT; Stamberger H; Carvill GL; Shinde DN; Mefford HC; Neagu E; Huether R; Lu HM; Dica A; Cohen JS; Iliescu C; Pomeran C; Rubenstein J; Helbig I; Sanlaville D; Hirsch E; Szepetowski P
Eur J Hum Genet; 2016 Dec; 24(12):1761-1770. PubMed ID: 27352968
[TBL] [Abstract][Full Text] [Related]
15. Augmented currents of an HCN2 variant in patients with febrile seizure syndromes.
Dibbens LM; Reid CA; Hodgson B; Thomas EA; Phillips AM; Gazina E; Cromer BA; Clarke AL; Baram TZ; Scheffer IE; Berkovic SF; Petrou S
Ann Neurol; 2010 Apr; 67(4):542-6. PubMed ID: 20437590
[TBL] [Abstract][Full Text] [Related]
16. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
; Leu C; de Kovel CG; Zara F; Striano P; Pezzella M; Robbiano A; Bianchi A; Bisulli F; Coppola A; Giallonardo AT; Beccaria F; Trenité DK; Lindhout D; Gaus V; Schmitz B; Janz D; Weber YG; Becker F; Lerche H; Kleefuss-Lie AA; Hallman K; Kunz WS; Elger CE; Muhle H; Stephani U; Møller RS; Hjalgrim H; Mullen S; Scheffer IE; Berkovic SF; Everett KV; Gardiner MR; Marini C; Guerrini R; Lehesjoki AE; Siren A; Nabbout R; Baulac S; Leguern E; Serratosa JM; Rosenow F; Feucht M; Unterberger I; Covanis A; Suls A; Weckhuysen S; Kaneva R; Caglayan H; Turkdogan D; Baykan B; Bebek N; Ozbek U; Hempelmann A; Schulz H; Rüschendorf F; Trucks H; Nürnberg P; Avanzini G; Koeleman BP; Sander T
Epilepsia; 2012 Feb; 53(2):308-18. PubMed ID: 22242659
[TBL] [Abstract][Full Text] [Related]
17. Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.
Kinay D; Oliver KL; Tüzün E; Damiano JA; Ulusoy C; Andermann E; Hildebrand MS; Bahlo M; Berkovic SF
Epilepsia; 2018 Aug; 59(8):e125-e129. PubMed ID: 29974457
[TBL] [Abstract][Full Text] [Related]
18. Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia.
Altıokka-Uzun G; Özdemir Ö; Uğur-İşeri S; Bebek N; Gürses C; Özbek U; Baykan B
Epileptic Disord; 2018 Oct; 20(5):396-400. PubMed ID: 30361188
[TBL] [Abstract][Full Text] [Related]
19. Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.
Coll M; Allegue C; Partemi S; Mates J; Del Olmo B; Campuzano O; Pascali V; Iglesias A; Striano P; Oliva A; Brugada R
Int J Legal Med; 2016 Mar; 130(2):331-9. PubMed ID: 26423924
[TBL] [Abstract][Full Text] [Related]
20. Dynamics of sensorimotor cortex activation during absence and myoclonic seizures in a mouse model of juvenile myoclonic epilepsy.
Ding L; Gallagher MJ
Epilepsia; 2016 Oct; 57(10):1568-1580. PubMed ID: 27573707
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
