Citations for
1EFMR, PCDH19
Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.
Yang L, Liu J, Su Q, Li Y, Yang X, Xu L, Tong L, Li B.
Brain Behav rain Behav. 2019 Nov 12:e01455. doi: 10.1002/brb3.1455. [Epub ahead of print] 2019
2EFMR, PCDH19
The role of PCDH19 in refractory status epilepticus.
Trivisano M, Specchio N.
Epilepsy Behav pilepsy Behav. 2019 Oct 30:106539. doi: 10.1016/j.yebeh.2019.106539. [Epub ahead of print] Review. 2019
3EOMES, PCDH19
TBR2 coordinates neurogenesis expansion and precise microcircuit organization via Protocadherin 19 in the mammalian cortex.
Lv X, Ren SQ, Zhang XJ, Shen Z, Ghosh T, Xianyu A, Gao P, Li Z, Lin S, Yu Y, Zhang Q, Groszer M, Shi SH.
Nat Commun 10(1):3946. doi: 10.1038/s41467-019-11854-x. 2019
4PCDH19
The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy-9 (EIEE9).
Gerosa L, Francolini M, Bassani S, Passafaro M.
Dev Neurobiol 79(1):75-84. doi: 10.1002/dneu.22654. Epub 2019 Jan 18. Review. 2019
5CDH2, PCDH19
Expression profile of N-cadherin and protocadherin-19 in postnatal mouse limbic structures.
Schaarschuch A, Hertel N.
J Comp Neurol 526(4):663-680. doi: 10.1002/cne.24359. Epub 2017 Dec 3. 2018
6EFMR, PCDH19
X-linked epileptic syndrome by protocadherin 19 mutation associated with leukoencephalopathy and posterior reversible tractopathy
Ortiz B, Jaramillo Y, Rojas C.
Biomedica 38(4):463-466. doi: 10.7705/biomedica.v38i4.3900. English, Spanish. 2018
7EFMR, PCDH19
Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.
Chemaly N, Losito E, Pinard JM, Gautier A, Villeneuve N, Arbues AS, An I, Desguerre I, Dulac O, Chiron C, Kaminska A, Nabbout R.
Epileptic Disord 20(6):457-467. doi: 10.1684/epd.2018.1009. 2018
8PCDH19
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ.
Neuron 97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005. 2018
9PCDH19
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice.
Pederick DT, Homan CC, Jaehne EJ, Piltz SG, Haines BP, Baune BT, Jolly LA, Hughes JN, Gecz J, Thomas PQ.
Sci Rep 6:26765. doi: 10.1038/srep26765. 2016
10PCDH19
Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.
Compagnucci C, Petrini S, Higuraschi N, Trivisano M, Specchio N, Hirose S, Bertini E, Terracciano A.
Oncotarget 6(29):26804-13. doi: 10.18632/oncotarget.5757. 2015
11EFMR, PCDH19
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Tan C, Shard C, Ranieri E, Hynes K, Pham DH, Leach D, Buchanan G, Corbett M, Shoubridge C, Kumar R, Douglas E, Nguyen LS, Mcmahon J, Sadleir L, Specchio N, Marini C, Guerrini R, Moller RS, Depienne C, Haan E, Thomas PQ, Berkovic SF, Scheffer IE, Gecz J.
Hum Mol Genet 24(18):5250-9. doi: 10.1093/hmg/ddv245. Epub 2015 Jun 29. 2015
12EFMR, PCDH19
Cognitive development in females with PCDH19 gene-related epilepsy.
Cappelletti S, Specchio N, Moavero R, Terracciano A, Trivisano M, Pontrelli G, Gentile S, Vigevano F, Cusmai R.
Epilepsy Behav 42:36-40. doi: 10.1016/j.yebeh.2014.10.019. Epub 2014 Dec 11. 2015
13EFMR, PCDH19
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH.
Neurogenetics 14(1):23-34. doi: 10.1007/s10048-013-0353-1. Epub 2013 Jan 20. 2013
14EFMR, PCDH19
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Depienne C, LeGuern E.
Hum Mutat 33(4):627-34. doi: 10.1002/humu.22029. Epub 2012 Feb 14. Review. 2012
15EFMR, PCDH19
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Nabbout R, Depienne C, Chiron C, Dulac O.
Neurology 76(13):1193-4; author reply 1194. No abstract available. 2011
16EIEE74, GABRG2, PCDH19, SCN1A, SCN1B, SMEI2
The genetics of Dravet syndrome.
Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R.
Epilepsia 52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Review. 2011
17CDH2, PCDH19
A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion.
Emond MR, Biswas S, Blevins CJ, Jontes JD.
J Cell Biol 195(7):1115-21. doi: 10.1083/jcb.201108115. Epub 2011 Dec 19. 2011
18CDH2, PCDH19
Protocadherin-19 and N-cadherin interact to control cell movements during anterior neurulation.
Biswas S, Emond MR, Jontes JD.
J Cell Biol 191(5):1029-41. 2010
19EFMR, PCDH19
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E.
PLoS Genet 5(2):e1000381. Epub 2009 Feb 13. Erratum in: PLoS Genet. 2009 Apr;5(4). doi: 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8e 2009
20EFMR, PCDH19
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, GŽcz J.
Nat Genet 40(6):776-81. Epub 2008 May 11. 2008
21PCDH10, PCDH18, PCDH19
Identification and characterization of three members of a novel subclass of protocadherins.
Wolverton T, Lalande M.
Genomics 76(1-3):66-72. 2001