132 related articles for article (PubMed ID: 30355546)
21. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Venkateswaran S; Myers KA; Smith AC; Beaulieu CL; Schwartzentruber JA; ; Majewski J; Bulman D; Boycott KM; Dyment DA
Epilepsia; 2014 Jul; 55(7):e75-9. PubMed ID: 24903190
[TBL] [Abstract][Full Text] [Related]
22. A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.
Pironti E; Salpietro V; Cucinotta F; Granata F; Mormina E; Efthymiou S; Scuderi C; Gagliano A; Houlden H; Di Rosa G
J Neurogenet; 2018 Dec; 32(4):316-321. PubMed ID: 29989513
[TBL] [Abstract][Full Text] [Related]
23. GRIN2D variants in three cases of developmental and epileptic encephalopathy.
Tsuchida N; Hamada K; Shiina M; Kato M; Kobayashi Y; Tohyama J; Kimura K; Hoshino K; Ganesan V; Teik KW; Nakashima M; Mitsuhashi S; Mizuguchi T; Takata A; Miyake N; Saitsu H; Ogata K; Miyatake S; Matsumoto N
Clin Genet; 2018 Dec; 94(6):538-547. PubMed ID: 30280376
[TBL] [Abstract][Full Text] [Related]
24. Seizure semiology reflects spread from frontal to temporal lobe: evolution of hyperkinetic to automotor seizures as documented by invasive EEG video recordings.
Tezer FI; Agan K; Borggraefe I; Noachtar S
Epileptic Disord; 2013 Sep; 15(3):338-41. PubMed ID: 23968850
[TBL] [Abstract][Full Text] [Related]
25. 14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?
Bertossi C; Cassina M; De Palma L; Vecchi M; Rossato S; Toldo I; Donà M; Murgia A; Boniver C; Sartori S
Brain Dev; 2014 May; 36(5):402-7. PubMed ID: 23838309
[TBL] [Abstract][Full Text] [Related]
26. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U; Nõukas M; Nikopensius T; Kals M; Annilo T; Nelis M; Ounap K; Reimand T; Talvik I; Ilves P; Piirsoo A; Seppet E; Metspalu A; Talvik T
J Child Neurol; 2014 Dec; 29(12):NP202-6. PubMed ID: 24352161
[TBL] [Abstract][Full Text] [Related]
27. A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
Thiffault I; Speca DJ; Austin DC; Cobb MM; Eum KS; Safina NP; Grote L; Farrow EG; Miller N; Soden S; Kingsmore SF; Trimmer JS; Saunders CJ; Sack JT
J Gen Physiol; 2015 Nov; 146(5):399-410. PubMed ID: 26503721
[TBL] [Abstract][Full Text] [Related]
28. Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.
Villeneuve N; Abidi A; Cacciagli P; Mignon-Ravix C; Chabrol B; Villard L; Milh M
Eur J Paediatr Neurol; 2017 Sep; 21(5):783-786. PubMed ID: 28506426
[TBL] [Abstract][Full Text] [Related]
29. Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report.
Jiao J; Li L; Sun M; Fang J; Meng L; Zhang Y; Jia C; Ma L
BMC Pediatr; 2021 Jan; 21(1):5. PubMed ID: 33397303
[TBL] [Abstract][Full Text] [Related]
30. Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.
Hundallah K; Alenizi A; AlHashem A; Tabarki B
Eur J Paediatr Neurol; 2016 Jul; 20(4):657-60. PubMed ID: 27117551
[TBL] [Abstract][Full Text] [Related]
31. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C; Kato M; Takahashi S; Lerman-Sagie T; Lev D; Terashima H; Kubota M; Kawawaki H; Matsufuji M; Kojima Y; Tateno A; Goldberg-Stern H; Straussberg R; Marom D; Leshinsky-Silver E; Nakashima M; Nishiyama K; Tsurusaki Y; Miyake N; Tanaka F; Matsumoto N; Saitsu H
Epilepsia; 2014 Jul; 55(7):994-1000. PubMed ID: 24888894
[TBL] [Abstract][Full Text] [Related]
32. GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.
Arya R; Spaeth C; Gilbert DL; Leach JL; Holland KD
Epileptic Disord; 2017 Mar; 19(1):67-75. PubMed ID: 28202424
[TBL] [Abstract][Full Text] [Related]
33. Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.
Papa FT; Mancardi MM; Frullanti E; Fallerini C; Della Chiara V; Zalba-Jadraque L; Baldassarri M; Gamucci A; Mari F; Veneselli E; Renieri A
Clin Dysmorphol; 2018 Jan; 27(1):18-20. PubMed ID: 29194067
[No Abstract] [Full Text] [Related]
34. GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors.
Mullier B; Wolff C; Sands ZA; Ghisdal P; Muglia P; Kaminski RM; André VM
Neuropharmacology; 2017 Sep; 123():322-331. PubMed ID: 28533163
[TBL] [Abstract][Full Text] [Related]
35. De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H; Ohba C; Kato M; Maeda T; Araki K; Tajima D; Matsuo M; Hino-Fukuyo N; Kohashi K; Ishiyama A; Takeshita S; Motoi H; Kitamura T; Kikuchi A; Tsurusaki Y; Nakashima M; Miyake N; Sasaki M; Kure S; Haginoya K; Saitsu H; Matsumoto N
Epilepsia; 2016 Apr; 57(4):566-73. PubMed ID: 26918889
[TBL] [Abstract][Full Text] [Related]
36. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Marini C; Darra F; Specchio N; Mei D; Terracciano A; Parmeggiani L; Ferrari A; Sicca F; Mastrangelo M; Spaccini L; Canopoli ML; Cesaroni E; Zamponi N; Caffi L; Ricciardelli P; Grosso S; Pisano T; Canevini MP; Granata T; Accorsi P; Battaglia D; Cusmai R; Vigevano F; Dalla Bernardina B; Guerrini R
Epilepsia; 2012 Dec; 53(12):2111-9. PubMed ID: 22946748
[TBL] [Abstract][Full Text] [Related]
37. A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
Romaniello R; Zucca C; Tenderini E; Arrigoni F; Ragona F; Zorzi G; Bassi MT; Borgatti R
J Child Neurol; 2014 Feb; 29(2):249-53. PubMed ID: 24170257
[TBL] [Abstract][Full Text] [Related]
38. Hyperkinetic seizures in children.
Weinstock A; Giglio P; Kerr SL; Duffner PK; Cohen ME
J Child Neurol; 2003 Aug; 18(8):517-24. PubMed ID: 13677576
[TBL] [Abstract][Full Text] [Related]
39. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Madeo M; Stewart M; Sun Y; Sahir N; Wiethoff S; Chandrasekar I; Yarrow A; Rosenfeld JA; Yang Y; Cordeiro D; McCormick EM; Muraresku CC; Jepperson TN; McBeth LJ; Seidahmed MZ; El Khashab HY; Hamad M; Azzedine H; Clark K; Corrochano S; Wells S; Elting MW; Weiss MM; Burn S; Myers A; Landsverk M; Crotwell PL; Waisfisz Q; Wolf NI; Nolan PM; Padilla-Lopez S; Houlden H; Lifton R; Mane S; Singh BB; Falk MJ; Mercimek-Mahmutoglu S; Bilguvar K; Salih MA; Acevedo-Arozena A; Kruer MC
Am J Hum Genet; 2016 Jun; 98(6):1249-1255. PubMed ID: 27236917
[TBL] [Abstract][Full Text] [Related]
40. De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.
Sakai Y; Fukai R; Matsushita Y; Miyake N; Saitsu H; Akamine S; Torio M; Sasazuki M; Ishizaki Y; Sanefuji M; Torisu H; Shaw CA; Matsumoto N; Hara T
Ann Hum Genet; 2016 Jul; 80(4):235-40. PubMed ID: 27346735
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
