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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2008 | 1 |
2009 | 1 |
2011 | 1 |
2013 | 2 |
2022 | 1 |
2024 | 0 |
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6 results
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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Nat Genet. 2008 Jun;40(6):776-81. doi: 10.1038/ng.149. Epub 2008 May 11.
Nat Genet. 2008.
PMID: 18469813
Free PMC article.
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.
Depienne C, et al.
PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13.
PLoS Genet. 2009.
PMID: 19214208
Free PMC article.
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Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F, Fusco L, Cusmai R, Darra F, Bernardina BD, Bertini E, Guerrini R, Vigevano F.
Specchio N, et al.
Epilepsia. 2011 Jul;52(7):1251-7. doi: 10.1111/j.1528-1167.2011.03063.x. Epub 2011 Apr 11.
Epilepsia. 2011.
PMID: 21480887
Free article.
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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.
van Harssel JJ, et al.
Neurogenetics. 2013 Feb;14(1):23-34. doi: 10.1007/s10048-013-0353-1. Epub 2013 Jan 20.
Neurogenetics. 2013.
PMID: 23334464
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PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S.
Higurashi N, et al.
Epilepsy Res. 2013 Sep;106(1-2):191-9. doi: 10.1016/j.eplepsyres.2013.04.005. Epub 2013 May 24.
Epilepsy Res. 2013.
PMID: 23712037
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PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.
Chen Y, Yang X, Chen J, Yang X, Yang Y, Liu A, Zhang X, Wu W, Sun D, Yang Z, Jiang Y, Zhang Y.
Chen Y, et al.
Front Neurol. 2022 Nov 3;13:1041509. doi: 10.3389/fneur.2022.1041509. eCollection 2022.
Front Neurol. 2022.
PMID: 36408521
Free PMC article.
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