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Items: 1 to 20 of 99

1.

Novel and de novo mutations in pediatric refractory epilepsy.

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.

Mol Brain. 2018 Sep 5;11(1):48. doi: 10.1186/s13041-018-0392-5.

2.

Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.

Miao P, Feng J, Guo YF, Wang J, Xu XX, Wang Y, Li Y, Gao LY, Zheng C, Cheng H.

Clin Genet. 2018 Sep 5. doi: 10.1111/cge.13441. [Epub ahead of print]

PMID:
30182498
3.

Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.

Tsai MH, Chan CK, Chang YC, Lin CH, Liou CW, Chang WN, Ng CC, Lim KS, Hwang DY.

Front Neurol. 2018 Jul 6;9:515. doi: 10.3389/fneur.2018.00515. eCollection 2018.

4.

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.

Romasko EJ, DeChene ET, Balciuniene J, Akgumus GT, Helbig I, Tarpinian JM, Keena BA, Vogiatzi MG, Zackai EH, Izumi K, Massey SL, Tayoun ANA.

Epilepsy Res. 2018 Sep;145:89-92. doi: 10.1016/j.eplepsyres.2018.06.008. Epub 2018 Jun 18.

PMID:
29933145
5.

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.

Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J.

Mol Psychiatry. 2018 Jun 11. doi: 10.1038/s41380-018-0066-9. [Epub ahead of print] Review.

PMID:
29892053
6.

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.

Tan Y, Hou M, Ma S, Liu P, Xia S, Wang Y, Chen L, Chen Z.

BMC Med Genet. 2018 Jun 4;19(1):92. doi: 10.1186/s12881-018-0621-x.

7.

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.

Homan CC, Pederson S, To TH, Tan C, Piltz S, Corbett MA, Wolvetang E, Thomas PQ, Jolly LA, Gecz J.

Neurobiol Dis. 2018 Aug;116:106-119. doi: 10.1016/j.nbd.2018.05.004. Epub 2018 May 12.

PMID:
29763708
8.

Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

Oates S, Tang S, Rosch R, Lear R, Hughes EF, Williams RE, Larsen LHG, Hao Q, Dahl HA, Møller RS, Pal DK.

NPJ Genom Med. 2018 May 10;3:13. doi: 10.1038/s41525-018-0052-9. eCollection 2018.

9.

PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.

Smith L, Singhal N, El Achkar CM, Truglio G, Rosen Sheidley B, Sullivan J, Poduri A.

Epilepsia. 2018 Mar;59(3):679-689. doi: 10.1111/epi.14003. Epub 2018 Jan 28. Erratum in: Epilepsia. 2018 Jun;59(6):1272.

PMID:
29377098
10.

The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons.

Bassani S, Cwetsch AW, Gerosa L, Serratto GM, Folci A, Hall IF, Mazzanti M, Cancedda L, Passafaro M.

Hum Mol Genet. 2018 Mar 15;27(6):1027-1038. doi: 10.1093/hmg/ddy019.

11.

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Nakayama T, Ishii A, Yoshida T, Nasu H, Shimojima K, Yamamoto T, Kure S, Hirose S.

Am J Med Genet A. 2018 Mar;176(3):657-662. doi: 10.1002/ajmg.a.38596. Epub 2018 Jan 17.

PMID:
29341473
12.

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. 2018 Jan 3;97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005.

PMID:
29301106
13.

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

Ortega-Moreno L, Giráldez BG, Soto-Insuga V, Losada-Del Pozo R, Rodrigo-Moreno M, Alarcón-Morcillo C, Sánchez-Martín G, Díaz-Gómez E, Guerrero-López R, Serratosa JM; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI).

PLoS One. 2017 Nov 30;12(11):e0188978. doi: 10.1371/journal.pone.0188978. eCollection 2017.

14.

Expression profile of N-cadherin and protocadherin-19 in postnatal mouse limbic structures.

Schaarschuch A, Hertel N.

J Comp Neurol. 2018 Mar 1;526(4):663-680. doi: 10.1002/cne.24359. Epub 2017 Dec 3.

PMID:
29159962
15.

Focal cortical dysplasia in genetic epilepsy: new insights from PCDH19-related epilepsy.

Trivisano M, Specchio N.

Dev Med Child Neurol. 2018 Jan;60(1):11-12. doi: 10.1111/dmcn.13615. Epub 2017 Nov 14. No abstract available.

PMID:
29135025
16.

Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

Kurian M, Korff CM, Ranza E, Bernasconi A, Lübbig A, Nangia S, Ramelli GP, Wohlrab G, Nordli DR Jr, Bast T.

Dev Med Child Neurol. 2018 Jan;60(1):100-105. doi: 10.1111/dmcn.13595. Epub 2017 Oct 24.

PMID:
29064093
17.

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Butler KM, da Silva C, Alexander JJ, Hegde M, Escayg A.

Pediatr Neurol. 2017 Dec;77:61-66. doi: 10.1016/j.pediatrneurol.2017.09.003. Epub 2017 Sep 6.

PMID:
29056246
18.

Dravet syndrome and its mimics: Beyond SCN1A.

Steel D, Symonds JD, Zuberi SM, Brunklaus A.

Epilepsia. 2017 Nov;58(11):1807-1816. doi: 10.1111/epi.13889. Epub 2017 Sep 7. Review.

PMID:
28880996
19.

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

Stosser MB, Lindy AS, Butler E, Retterer K, Piccirillo-Stosser CM, Richard G, McKnight DA.

Genet Med. 2018 Apr;20(4):403-410. doi: 10.1038/gim.2017.114. Epub 2017 Aug 24.

20.

Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice.

Hayashi S, Inoue Y, Hattori S, Kaneko M, Shioi G, Miyakawa T, Takeichi M.

Sci Rep. 2017 Jul 19;7(1):5801. doi: 10.1038/s41598-017-06374-x.

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