187 related articles for article (PubMed ID: 32878331)
1. Novel Missense
Berecki G; Helbig KL; Ware TL; Grinton B; Skraban CM; Marsh ED; Berkovic SF; Petrou S
Int J Mol Sci; 2020 Aug; 21(17):. PubMed ID: 32878331
[TBL] [Abstract][Full Text] [Related]
2. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J; Siquier-Pernet K; Nicouleau M; Barcia G; Ahmad A; Medina-Cano D; Hanein S; Altin N; Hubert L; Bole-Feysot C; Fourage C; Nitschké P; Thevenon J; Rio M; Blanc P; Vidal C; Bahi-Buisson N; Desguerre I; Munnich A; Lyonnet S; Boddaert N; Fassi E; Shinawi M; Zimmerman H; Amiel J; Faivre L; Colleaux L; Lory P; Cantagrel V
Brain; 2018 Jul; 141(7):1998-2013. PubMed ID: 29878067
[TBL] [Abstract][Full Text] [Related]
3. De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Kunii M; Doi H; Hashiguchi S; Matsuishi T; Sakai Y; Iai M; Okubo M; Nakamura H; Takahashi K; Katsumoto A; Tada M; Takeuchi H; Ishikawa T; Miyake N; Saitsu H; Matsumoto N; Tanaka F
J Neurol Sci; 2020 Sep; 416():117047. PubMed ID: 32736238
[TBL] [Abstract][Full Text] [Related]
4. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S; Li J; Wu Y; Jiang Y
J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252
[TBL] [Abstract][Full Text] [Related]
5. A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Coutelier M; Blesneac I; Monteil A; Monin ML; Ando K; Mundwiller E; Brusco A; Le Ber I; Anheim M; Castrioto A; Duyckaerts C; Brice A; Durr A; Lory P; Stevanin G
Am J Hum Genet; 2015 Nov; 97(5):726-37. PubMed ID: 26456284
[TBL] [Abstract][Full Text] [Related]
6. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb Y; Schneeberger PE; Fernández-Quintero ML; Geisler SM; Pelizzari S; Polstra AM; van Hagen JM; Denecke J; Campiglio M; Liedl KR; Stevens CA; Person RE; Rentas S; Marsh ED; Conlin LK; Tuluc P; Kutsche K; Flucher BE
Brain; 2021 Aug; 144(7):2092-2106. PubMed ID: 33704440
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H; Fukai R; Ben-Zeev B; Sakai Y; Mimaki M; Okamoto N; Suzuki Y; Monden Y; Saito H; Tziperman B; Torio M; Akamine S; Takahashi N; Osaka H; Yamagata T; Nakamura K; Tsurusaki Y; Nakashima M; Miyake N; Shiina M; Ogata K; Matsumoto N
Eur J Hum Genet; 2016 Jan; 24(1):129-34. PubMed ID: 25966631
[TBL] [Abstract][Full Text] [Related]
8. Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.
Barresi S; Dentici ML; Manzoni F; Bellacchio E; Agolini E; Pizzi S; Ciolfi A; Tarnopolsky M; Brady L; Garone G; Novelli A; Mei D; Guerrini R; Capuano A; Pantaleoni C; Tartaglia M
Pediatr Neurol; 2020 Mar; 104():40-45. PubMed ID: 31836334
[TBL] [Abstract][Full Text] [Related]
9. Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy.
Beck VC; Hull JM; Isom LL
Epilepsy Curr; 2019; 19(4):266-268. PubMed ID: 31257984
[TBL] [Abstract][Full Text] [Related]
10. A description of novel variants and review of phenotypic spectrum in
Briere LC; Walker MA; High FA; Cooper C; Rogers CA; Callahan CJ; Ishimura R; Ichimura Y; Caruso PA; Sharma N; Brokamp E; Koziura ME; Mohammad SS; Dale RC; Riley LG; ; Phillips JA; Komatsu M; Sweetser DA
Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 33811063
[TBL] [Abstract][Full Text] [Related]
11. West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.
Shaukat Q; Hertecant J; El-Hattab AW; Ali BR; Suleiman J
Epileptic Disord; 2018 Oct; 20(5):401-412. PubMed ID: 30361190
[TBL] [Abstract][Full Text] [Related]
12. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Punetha J; Karaca E; Gezdirici A; Lamont RE; Pehlivan D; Marafi D; Appendino JP; Hunter JV; Akdemir ZC; Fatih JM; Jhangiani SN; Gibbs RA; Innes AM; Posey JE; Lupski JR
Ann Clin Transl Neurol; 2019 Aug; 6(8):1395-1406. PubMed ID: 31402629
[TBL] [Abstract][Full Text] [Related]
13. De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
Stringer RN; Jurkovicova-Tarabova B; Souza IA; Ibrahim J; Vacik T; Fathalla WM; Hertecant J; Zamponi GW; Lacinova L; Weiss N
Mol Brain; 2021 Aug; 14(1):126. PubMed ID: 34399820
[TBL] [Abstract][Full Text] [Related]
14. Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Ca
Hara N; Morino H; Matsuda Y; Satoh K; Hashimoto K; Maruyama H; Kawakami H
Mol Brain; 2020 Nov; 13(1):163. PubMed ID: 33243296
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
Johannsen J; Kortüm F; Rosenberger G; Bokelmann K; Schirmer MA; Denecke J; Santer R
Neurogenetics; 2018 Aug; 19(3):151-156. PubMed ID: 29808465
[TBL] [Abstract][Full Text] [Related]
17. Mutations of PTPN23 in developmental and epileptic encephalopathy.
Sowada N; Hashem MO; Yilmaz R; Hamad M; Kakar N; Thiele H; Arold ST; Bode H; Alkuraya FS; Borck G
Hum Genet; 2017 Nov; 136(11-12):1455-1461. PubMed ID: 29090338
[TBL] [Abstract][Full Text] [Related]
18. Lethal digenic mutations in the K
Hasan S; Balobaid A; Grottesi A; Dabbagh O; Cenciarini M; Rawashdeh R; Al-Sagheir A; Bove C; Macchioni L; Pessia M; Al-Owain M; D'Adamo MC
J Neurophysiol; 2017 Oct; 118(4):2402-2411. PubMed ID: 28747464
[TBL] [Abstract][Full Text] [Related]
19. Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome.
Calhoun JD; Hawkins NA; Zachwieja NJ; Kearney JA
Epilepsia; 2017 Aug; 58(8):e111-e115. PubMed ID: 28556246
[TBL] [Abstract][Full Text] [Related]
20. Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
Millichap JJ; Miceli F; De Maria M; Keator C; Joshi N; Tran B; Soldovieri MV; Ambrosino P; Shashi V; Mikati MA; Cooper EC; Taglialatela M
Epilepsia; 2017 Jan; 58(1):e10-e15. PubMed ID: 27861786
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
