BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Zhou P, He N, Zhang JW, Lin ZJ, Wang J, Yan LM, Meng H, Tang B, Li BM, Liu XR, Shi YW, Zhai QX, Yi YH, Liao WP. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav 2018;17:e12456. [PMID: 29314583 DOI: 10.1111/gbb.12456] [Cited by in Crossref: 41] [Cited by in F6Publishing: 44] [Article Influence: 10.3] [Reference Citation Analysis]
Number Citing Articles
1 Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, Mctague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-londono R, Dudding-byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz M, Piton A, Gerard B, Abi Warde M, Rea G, Mckenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, Mcwalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Mol Psychiatry 2022. [DOI: 10.1038/s41380-022-01852-9] [Reference Citation Analysis]
2 Gao K, Lin Z, Wen S, Jiang Y. Potassium channels and epilepsy. Acta Neurol Scand 2022. [PMID: 36225112 DOI: 10.1111/ane.13695] [Reference Citation Analysis]
3 Boonsimma P, Ittiwut C, Kamolvisit W, Ittiwut R, Chetruengchai W, Phokaew C, Srichonthong C, Poonmaksatit S, Desudchit T, Suphapeetiporn K, Shotelersuk V. Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact. Eur J Hum Genet 2022. [PMID: 36198807 DOI: 10.1038/s41431-022-01202-x] [Reference Citation Analysis]
4 Wang Q, Qin T, Tan H, Ding X, Lin X, Li J, Lin Z, Sun L, Lin H, Chen W. Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families. American J of Med Genetics Pt A. [DOI: 10.1002/ajmg.a.62947] [Reference Citation Analysis]
5 Liu D, Tang X, Wan R, Luo S, Guan B, Li B, Liu L, Li B, Liu Z, Xie L, Yi Y. PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation. Front Neurol 2022;13:836048. [DOI: 10.3389/fneur.2022.836048] [Reference Citation Analysis]
6 Riza AL, Streață I, Roza E, Budișteanu M, Iliescu C, Burloiu C, Dobrescu MA, Dorobanțu S, Dragoș A, Grigorescu A, Tătaru T, Ioana M, Teleanu R. Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort. Genes (Basel) 2022;13:1253. [PMID: 35886038 DOI: 10.3390/genes13071253] [Reference Citation Analysis]
7 Cai T, Huang J, Ma X, Hu S, Zhu L, Zhu J, Feng Z. Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis. Front Genet 2022;13:892940. [DOI: 10.3389/fgene.2022.892940] [Reference Citation Analysis]
8 Mir A, Amer F, Ali M, Alotaibi W, Alotaibi M, Hedaithy A, Aldurayhim F, Hussain F, Bashir S, Housawi Y. Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L. Clin EEG Neurosci 2022;:15500594221112508. [PMID: 35815844 DOI: 10.1177/15500594221112508] [Reference Citation Analysis]
9 Guzman RE, Sierra-marquez J, Bungert-plümke S, Franzen A, Fahlke C. Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy. Front Mol Neurosci 2022;15:872407. [DOI: 10.3389/fnmol.2022.872407] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
10 Li X, Li Z, Liang X, Liu D, Jiang M, Gao L, Li H, Tang X, Shi Y, Li B, He N, Li B, Bian W, Yi Y, Cheng C, Wang J. CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications. Front Mol Neurosci 2022;15:860662. [DOI: 10.3389/fnmol.2022.860662] [Reference Citation Analysis]
11 Simkin D, Ambrosi C, Marshall KA, Williams LA, Eisenberg J, Gharib M, Dempsey GT, George AL Jr, McManus OB, Kiskinis E. 'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies. Trends Pharmacol Sci 2022;43:392-405. [PMID: 35427475 DOI: 10.1016/j.tips.2022.03.001] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 Zhu L, Peng F, Deng Z, Feng Z, Ma X. A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy. Front Genet 2022;13:761178. [DOI: 10.3389/fgene.2022.761178] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
13 Cali E, Rocca C, Salpietro V, Houlden H. Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery. Front Neurol 2021;12:806506. [PMID: 35095745 DOI: 10.3389/fneur.2021.806506] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
14 De Maria B, Balestrini S, Mei D, Melani F, Pellacani S, Pisano T, Rosati A, Scaturro GM, Giordano L, Cantalupo G, Fontana E, Zammarchi C, Said E, Leuzzi V, Mastrangelo M, Galosi S, Parrini E, Guerrini R. Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy. Am J Med Genet A 2021. [PMID: 34713950 DOI: 10.1002/ajmg.a.62548] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 6.0] [Reference Citation Analysis]
15 Shlobin NA, Singh G, Newton CR, Sander JW. Classifying epilepsy pragmatically: Past, present, and future. J Neurol Sci 2021;427:117515. [PMID: 34174531 DOI: 10.1016/j.jns.2021.117515] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 6.0] [Reference Citation Analysis]
16 Sun D, Liu Y, Cai W, Ma J, Ni K, Chen M, Wang C, Liu Y, Zhu Y, Liu Z, Zhu F. Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies. Front Pediatr 2021;9:635703. [PMID: 34055682 DOI: 10.3389/fped.2021.635703] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
17 He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T. The molecular and phenotypic spectrum of CLCN4-related epilepsy. Epilepsia 2021;62:1401-15. [PMID: 33951195 DOI: 10.1111/epi.16906] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
18 Fontana A, Consentino MC, Motta M, Costanza G, Lo Bianco M, Marino S, Falsaperla R, Praticò AD. Syntaxin Binding Protein 1 Related Epilepsies. Journal of Pediatric Neurology. [DOI: 10.1055/s-0041-1727259] [Reference Citation Analysis]
19 Guo YX, Ma HX, Zhang YX, Chen ZH, Zhai QX. Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders. Int J Gen Med 2021;14:1275-82. [PMID: 33880059 DOI: 10.2147/IJGM.S300775] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
20 Portale A, Comella M, Salomone G, Di Nora A, Marino L, Leonardi R, Praticò AD, Falsaperla R. The Spectrum of KCNQ2- and KCNQ3-Related Epilepsy. Journal of Pediatric Neurology. [DOI: 10.1055/s-0041-1727099] [Reference Citation Analysis]
21 Ma H, Guo Y, Chen Z, Wang L, Tang Z, Zhang J, Miao Q, Zhai Q. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+). Seizure 2021;88:146-52. [PMID: 33895391 DOI: 10.1016/j.seizure.2021.04.006] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
22 Lo AC, Rajan N, Gastaldo D, Telley L, Hilal ML, Buzzi A, Simonato M, Achsel T, Bagni C. Absence of RNA-binding protein FXR2P prevents prolonged phase of kainate-induced seizures. EMBO Rep 2021;22:e51404. [PMID: 33779029 DOI: 10.15252/embr.202051404] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
23 Döring JH, Schröter J, Jüngling J, Biskup S, Klotz KA, Bast T, Dietel T, Korenke GC, Christoph S, Brennenstuhl H, Rubboli G, Møller RS, Lesca G, Chaix Y, Kölker S, Hoffmann GF, Lemke JR, Syrbe S. Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders. Int J Mol Sci 2021;22:2824. [PMID: 33802230 DOI: 10.3390/ijms22062824] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 9.0] [Reference Citation Analysis]
24 Bose S, He H, Stauber T. Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters. Front Cell Dev Biol 2021;9:639231. [PMID: 33708769 DOI: 10.3389/fcell.2021.639231] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 10.0] [Reference Citation Analysis]
25 王 潇. Research Advances in Epilepsy Related to SCN2A Gene Mutation. ACREM 2021;09:20-24. [DOI: 10.12677/acrem.2021.92004] [Reference Citation Analysis]
26 Brugnoni R, Maggi L, Canioni E, Verde F, Gallone A, Ariatti A, Filosto M, Petrelli C, Logullo FO, Esposito M, Ruggiero L, Tonin P, Riguzzi P, Pegoraro E, Torri F, Ricci G, Siciliano G, Silani V, Merlini L, De Pasqua S, Liguori R, Pini A, Mariotti C, Moroni I, Imbrici P, Desaphy JF, Mantegazza R, Bernasconi P. Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients. Neuromuscul Disord 2021;31:336-47. [PMID: 33573884 DOI: 10.1016/j.nmd.2020.12.003] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 2.5] [Reference Citation Analysis]
27 Bhatia NS, Lim JY, Bonnard C, Kuan J, Brett M, Wei H, Cham B, Chin H, Bosso-lefevre C, Dharuman P, Escande-beillard N, Devasia AG, Goh CYJ, Kam S, Liew WK, Liew WK, Lin G, Jain K, Ng AY, Subramanian D, Xie M, Tan Y, Tawari NR, Tiang Z, Ting TW, Tohari S, Tong CK, Lezhava A, Ng SB, Law HY, Venkatesh B, Tomar S, Sethi R, Tan G, Shanmugasundaram A, Goh DL, Lai PS, Lai A, Tan ES, Ng I, Reversades B, Tan EC, Foo R, Jamuar SS. Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management. Arch Dis Child 2020;106:31-7. [DOI: 10.1136/archdischild-2020-319180] [Cited by in Crossref: 7] [Cited by in F6Publishing: 9] [Article Influence: 3.5] [Reference Citation Analysis]
28 Menezes LFS, Sabiá Júnior EF, Tibery DV, Carneiro LDA, Schwartz EF. Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review. Front Pharmacol 2020;11:1276. [PMID: 33013363 DOI: 10.3389/fphar.2020.01276] [Cited by in Crossref: 28] [Cited by in F6Publishing: 33] [Article Influence: 14.0] [Reference Citation Analysis]
29 Liu L, Chen ZR, Xu HQ, Liu DT, Mao Y, Liu HK, Liu XR, Zhou P, Lin SM, Li B, He N, Su T, Zhai QX, Meng H, Liao WP, Yi YH. DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect. Front Neurosci 2020;14:821. [PMID: 32848577 DOI: 10.3389/fnins.2020.00821] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 6.5] [Reference Citation Analysis]
30 Velíšek L, Velíšková J. Modeling epileptic spasms during infancy: Are we heading for the treatment yet? Pharmacol Ther 2020;212:107578. [PMID: 32417271 DOI: 10.1016/j.pharmthera.2020.107578] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 3.5] [Reference Citation Analysis]
31 Paredes AC, González DV, Espinosa E. Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1. Repert Med Cir 2020;29:192-197. [DOI: 10.31260/repertmedcir.01217273.966] [Reference Citation Analysis]
32 Perry CJ, Finch P, Müller-Taubenberger A, Leung KY, Warren EC, Damstra-Oddy J, Sharma D, Patra PH, Glyn S, Boberska J, Stewart B, Baldwin A, Piscitelli F, Harvey RJ, Harwood A, Thompson C, Claus SP, Greene NDE, McNeish AJ, Williams CM, Whalley BJ, Williams RSB. A new mechanism for cannabidiol in regulating the one-carbon cycle and methionine levels in Dictyostelium and in mammalian epilepsy models. Br J Pharmacol 2020;177:912-28. [PMID: 31693171 DOI: 10.1111/bph.14892] [Cited by in Crossref: 12] [Cited by in F6Publishing: 16] [Article Influence: 6.0] [Reference Citation Analysis]
33 Pellacani S, Dosi C, Valvo G, Moro F, Mero S, Sicca F, Santorelli FM. Customized multigene panels in epilepsy: the best things come in small packages. Neurogenetics 2020;21:1-18. [PMID: 31834528 DOI: 10.1007/s10048-019-00598-x] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
34 Mastrangelo M. Clinical approach to neurodegenerative disorders in childhood: an updated overview. Acta Neurol Belg 2019;119:511-21. [PMID: 31161467 DOI: 10.1007/s13760-019-01160-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
35 Barcia G, Chemaly N, Kuchenbuch M, Eisermann M, Gobin-Limballe S, Ciorna V, Macaya A, Lambert L, Dubois F, Doummar D, Billette de Villemeur T, Villeneuve N, Barthez MA, Nava C, Boddaert N, Kaminska A, Bahi-Buisson N, Milh M, Auvin S, Bonnefont JP, Nabbout R. Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability. Neurol Genet 2019;5:e363. [PMID: 31872048 DOI: 10.1212/NXG.0000000000000363] [Cited by in Crossref: 21] [Cited by in F6Publishing: 23] [Article Influence: 7.0] [Reference Citation Analysis]
36 Wang S, Meng X, Wang Y, Liu Y, Xia J. HPO-Shuffle: an associated gene prioritization strategy and its application in drug repurposing for the treatment of canine epilepsy. Biosci Rep 2019;39:BSR20191247. [PMID: 31427480 DOI: 10.1042/BSR20191247] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
37 Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, Oneda B, Socher E, Crowther LM, Wohlrab G, Gogoll L, Poms M, Seiler M, Papik M, Baldinger R, Baumer A, Asadollahi R, Kroell-Seger J, Schmid R, Iff T, Schmitt-Mechelke T, Otten K, Hackenberg A, Addor MC, Klein A, Azzarello-Burri S, Sticht H, Joset P, Plecko B, Rauch A. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. Eur J Hum Genet 2019;27:408-21. [PMID: 30552426 DOI: 10.1038/s41431-018-0299-8] [Cited by in Crossref: 36] [Cited by in F6Publishing: 36] [Article Influence: 9.0] [Reference Citation Analysis]
38 Miao P, Feng J, Guo Y, Wang J, Xu X, Wang Y, Li Y, Gao L, Zheng C, Cheng H. Genotype and phenotype analysis using an epilepsy‐associated gene panel in Chinese pediatric epilepsy patients. Clin Genet 2018;94:512-20. [DOI: 10.1111/cge.13441] [Cited by in Crossref: 28] [Cited by in F6Publishing: 29] [Article Influence: 7.0] [Reference Citation Analysis]
39 Liu J, Tong L, Song S, Niu Y, Li J, Wu X, Zhang J, Zai CC, Luo F, Wu J, Li H, Wong AHC, Sun R, Liu F, Li B. Novel and de novo mutations in pediatric refractory epilepsy. Mol Brain 2018;11:48. [PMID: 30185235 DOI: 10.1186/s13041-018-0392-5] [Cited by in Crossref: 41] [Cited by in F6Publishing: 45] [Article Influence: 10.3] [Reference Citation Analysis]
40 Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. Seizure 2019;69:180-5. [PMID: 31059981 DOI: 10.1016/j.seizure.2018.08.027] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
41 Lamar KJ, Carvill GL. Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy. Front Mol Neurosci 2018;11:208. [PMID: 29962935 DOI: 10.3389/fnmol.2018.00208] [Cited by in Crossref: 32] [Cited by in F6Publishing: 33] [Article Influence: 8.0] [Reference Citation Analysis]
42 He N, Li BM, Li ZX, Wang J, Liu XR, Meng H, Tang B, Bian WJ, Shi YW, Liao WP. Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. J Neurodev Disord 2018;10:10. [PMID: 29558884 DOI: 10.1186/s11689-018-9229-x] [Cited by in Crossref: 12] [Cited by in F6Publishing: 15] [Article Influence: 3.0] [Reference Citation Analysis]