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35557555,28832002,35780567,34711204,33754465,30771507,25959266,33192566,32362866,20437616,37820178,37748886,37574439,37510258,37503580,37498161,37483062,37471090,37469072,37453291,37429835,37429183,37421948,37369202,37368396,37368384,37344571,37329172,37264783,37236004,37230012,37203213,37183190,37166538,37165752,37164289,37142513,37107610,37099824,37096745,37096266,37092751,37092538,37084674,37078131,37046053,37011526,36989566,36987741,36980870,36967109,36966012,36948217,36938796,36932231,36896643,36882863,36882827,36849527,36791049,36775847,36734057,36731496,36671571,36646291,36641749,36625631,36571524,36535243,36444437,36403551,36279113,36252977,36217831,36192182,36173683,36170093,36143929,36113748,36103453,36088682,36084525,36011358,35998430,35977725,35972048,35917229,35914944,35886038,35806387,35802036,35765698,35722775,35715422,35698786,35696452,35638461,35633140,35618197,35612999,35551623,35545418,35532890,35505348,35490361,35474188,35461703,35414446,35395208,35393335,35385942,35385941,35373813,35365919,35316582,35313204,35305402,35234610,35179230,35149262,35104249,35098521,35094084,34986040,34954817,34915430,34911751,34882995,34856666,34856663,34818117,34774383,34773825,34735964,34717047,34707297,34698933,34690354,34689486,34687210,34605012,34587683,34519644,34519126,34483011,34446925,34405643,34380004,34374989,34356104,34356067,34338318,34309696,34309607,34285383,34273994,34271245,34238328,34231838,34226156,34212383,34211179,34145886,34102826,34102571,34102099,34087996,34074259,34041744,34008866,33982289,33971351,33958710,33955715,33914968,33902225,33902223,33847457,33827760,33811063,33797191,33773177,33761731,33749980,33731878,33711494,33681666,33616268,33590434,33568421,33557955,33528536,33476302,33393416,33298085,33183916,33130809,33108073,33087045,33000761,32979071,32972427,32964447,32917807,32917465,32887777,32815282,32811771,32785985,32759067,32750235,32737135,32725661,32725632,32719099,32712949,32702657,32700846,32666661,32645220,32605344,32593896,32593294,32588908,32585800,32571458,32568404,32532640,32531461,32529299,32521962,32506321,32479982,32452540,32424948,32415730,32407885,32400968,32389449,32384786,32347641,32337771,32318771,32286009,32276107,32249079,32220244,32203252,32196822,32167590,32147726,32139178,32102148,32089526,31959558,31928905,31926053,31905474,31887642,31883110,31838863,31814314,31791873,31784560,31707317,31636452,31631344,31618474,31515523,31475481,31451536,31401500,31397114,31394400,31353862,31353855,31302916,31283873,31269553,31199083,31152295,31110234,31059981,30968951,30963790,30922778,30912236,30701556,30691927,30686625,30684285,30642806,30642272,30552298,30541864,30525185,30451291,30392205,30351409,30311510,30283035,30258207,30180405,30174244,30160831,30117335,30078785,29997391,29996185,29989513,29986434,29930392,29899372,29878067,29790814,29789371,29753047,29727612,29726066,29720203,29687738,29677576,29663568,29663120,29649454,29630738,29618507,29598907,29573052,29538787,29518120,29460957,29377098,29239743,29171013,29162865,29045977,29031192,28970574,28965491,28926830,28893434,28872899,28815871,28794249,28777935,28681755,28667181,28655139,28638151,28605011,28556953,28442529,28422131,28387369,28377535,28325891,28295046,28255779,28212375,28132692,28109652,28072960,28045139,27882480,27864268,27861786,27843043,27831545,27823948,27806796,27720902,27681997,27567911,27439707,27371789,27371672,27340022,27315173,27311965,27282546,27281533,27261973,27207608,27170158,27164683,27113213,27030146,26993565,26917586,26873267,26860718,26824337,26818157,26817790,26797656,26719496,26679672,26626369,26604000,26598494,26486472,26384929,26297560,26291284,26203087,26190011,26140313,26096993,26079862,26077850,26022171,26002053,25982755,25951140,25851414,25818041,25803912,25744623,25697436,25691404,25596525,25595153,25555910,25542253,25532859,25524840,25459969,25445412,25406551,25401298,25108116,25047565,25044251,25028416,24997092,24931665,24903190,24888894,24836831,24823731,24801133,24781210,24630051,24564546,24468822,24375629,24332781,24300712,24281369,24205694,24189369,24152123,24045845,23935176,23917947,23750890,23687080,23662938,23657910,23647072,23621294,23440208,23418007,23131349,23022070,22825934,22752548,22719002,22678813,22628459,22617547,22606975,22565053,22543972,22476991,22342432,22275249,22264704,22212417,21945537,21829378,21738351,21649651,21500142,21480887,21455106,21452752,21108402,21093728,21087195,20852934,20825490,20541044,20454899,20194544,20172746,19901175,19764027,19592270[uid]

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Year	Number of Results
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Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders.

Xiao T, Chen X, Xu Y, Chen H, Dong X, Yang L, Wu B, Chen L, Li L, Zhuang D, Chen D, Zhou Y, Wang H, Zhou W. Xiao T, et al. Front Mol Neurosci. 2022 Apr 26;15:809810. doi: 10.3389/fnmol.2022.809810. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35557555 Free PMC article.

Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2-related neonatal epileptic encephalopathy.

Buttle SG, Sell E, Dyment D, Bulusu S, Pohl D. Buttle SG, et al. Epileptic Disord. 2017 Sep 1;19(3):351-356. doi: 10.1684/epd.2017.0927. Epileptic Disord. 2017. PMID: 28832002

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.

Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S. Miceli F, et al. EBioMedicine. 2022 Jul;81:104130. doi: 10.1016/j.ebiom.2022.104130. Epub 2022 Jun 30. EBioMedicine. 2022. PMID: 35780567 Free PMC article.

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.

Xu Y, Dou YL, Chen X, Dong XR, Wang XH, Wu BB, Cheng GQ, Zhou YF. Xu Y, et al. BMC Pediatr. 2021 Oct 28;21(1):477. doi: 10.1186/s12887-021-02946-z. BMC Pediatr. 2021. PMID: 34711204 Free PMC article.

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

Mary L, Nourisson E, Feger C, Laugel V, Chaigne D, Keren B, Afenjar A, Billette T, Trost D, Cieuta-Walti C, Gerard B, Piton A, Schaefer E. Mary L, et al. Am J Med Genet A. 2021 Jun;185(6):1803-1815. doi: 10.1002/ajmg.a.62181. Epub 2021 Mar 23. Am J Med Genet A. 2021. PMID: 33754465

Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.

Kuersten M, Tacke M, Gerstl L, Hoelz H, Stülpnagel CV, Borggraefe I. Kuersten M, et al. Eur J Med Genet. 2020 Jan;63(1):103628. doi: 10.1016/j.ejmg.2019.02.001. Epub 2019 Feb 14. Eur J Med Genet. 2020. PMID: 30771507 Review.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Coeslier AD, Dailland T, Lesca G, Philip N, Villard L. Milh M, et al. Am J Med Genet A. 2015 Oct;167A(10):2314-8. doi: 10.1002/ajmg.a.37152. Epub 2015 May 10. Am J Med Genet A. 2015. PMID: 25959266

The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding.

Dirkx N, Miceli F, Taglialatela M, Weckhuysen S. Dirkx N, et al. Front Physiol. 2020 Oct 28;11:570588. doi: 10.3389/fphys.2020.570588. eCollection 2020. Front Physiol. 2020. PMID: 33192566 Free PMC article. Review.

KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report.

Geng Y, Hou X. Geng Y, et al. Front Neurol. 2020 Apr 17;11:263. doi: 10.3389/fneur.2020.00263. eCollection 2020. Front Neurol. 2020. PMID: 32362866 Free PMC article.

KCNQ2-Related Disorders.

Miceli F, Soldovieri MV, Weckhuysen S, Cooper E, Taglialatela M. Miceli F, et al. 2010 Apr 27 [updated 2022 May 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2010 Apr 27 [updated 2022 May 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20437616 Free Books & Documents. Review.

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