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Items: 1 to 20 of 71

1.

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Perucca P, Scheffer IE, Harvey AS, James PA, Lunke S, Thorne N, Gaff C, Regan BM, Damiano JA, Hildebrand MS, Berkovic SF, O'Brien TJ, Kwan P.

Epilepsy Res. 2017 Feb 7;131:1-8. doi: 10.1016/j.eplepsyres.2017.02.001. [Epub ahead of print]

PMID:
28199897
2.

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP; DDD Study., Zuberi SM.

Epilepsia. 2017 Feb 6. doi: 10.1111/epi.13669. [Epub ahead of print]

PMID:
28166369
3.

Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.

Cooper SR, Jontes JD, Sotomayor M.

Elife. 2016 Oct 26;5. pii: e18529. doi: 10.7554/eLife.18529.

4.

Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.

Gokben S, Onay H, Yilmaz S, Atik T, Serdaroglu G, Tekin H, Ozkinay F.

Acta Neurol Belg. 2016 Oct 12. [Epub ahead of print]

PMID:
27734276
5.

Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.

Segal E, Pedro H, Valdez-Gonzalez K, Parisotto S, Gliksman F, Thompson S, Sabri J, Fertig E.

Pediatr Neurol. 2016 Nov;64:66-71. doi: 10.1016/j.pediatrneurol.2016.06.019.

PMID:
27726903
6.

The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.

Liu A, Xu X, Yang X, Jiang Y, Yang Z, Liu X, Wu Y, Wu X, Wei L, Zhang Y.

Clin Genet. 2017 Jan;91(1):54-62. doi: 10.1111/cge.12846.

PMID:
27527380
7.

Ketogenic diet treatment for pediatric super-refractory status epilepticus.

Appavu B, Vanatta L, Condie J, Kerrigan JF, Jarrar R.

Seizure. 2016 Oct;41:62-5. doi: 10.1016/j.seizure.2016.07.006.

PMID:
27475280
8.

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.

Trivisano M, Pietrafusa N, Ciommo Vd, Cappelletti S, Palma Ld, Terracciano A, Bertini E, Vigevano F, Specchio N.

Epilepsy Res. 2016 Sep;125:32-6. doi: 10.1016/j.eplepsyres.2016.05.015.

PMID:
27371789
9.

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. 2016 May 31;6:26765. doi: 10.1038/srep26765.

10.

Clinical and genetic analysis of two Chinese infants with Mabry syndrome.

Xue J, Li H, Zhang Y, Yang Z.

Brain Dev. 2016 Oct;38(9):807-18. doi: 10.1016/j.braindev.2016.04.008.

PMID:
27177984
11.

[Genotype and phenotype of female Dravet syndrome with PCDH19 mutations].

Liu AJ, Zhang YH, Xu XJ, Yang XL, Yang ZX, Wu Y, Liu XY, Jiang YW, Wu XR.

Zhonghua Er Ke Za Zhi. 2016 May;54(5):327-31. doi: 10.3760/cma.j.issn.0578-1310.2016.05.004. Chinese.

PMID:
27143072
12.

A targeted resequencing gene panel for focal epilepsy.

Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC.

Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608.

PMID:
27029629
13.

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

Thiffault I, Farrow E, Smith L, Lowry J, Zellmer L, Black B, Abdelmoity A, Miller N, Soden S, Saunders C.

Am J Med Genet A. 2016 Jun;170(6):1585-9. doi: 10.1002/ajmg.a.37617.

PMID:
27016041
14.

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Trump N, McTague A, Brittain H, Papandreou A, Meyer E, Ngoh A, Palmer R, Morrogh D, Boustred C, Hurst JA, Jenkins L, Kurian MA, Scott RH.

J Med Genet. 2016 May;53(5):310-7. doi: 10.1136/jmedgenet-2015-103263.

15.

Epilepsy with PCDH19 mutation masquerading as benign partial epilepsy in infancy.

Samanta D.

Neurol India. 2016 Mar-Apr;64(2):327-8. doi: 10.4103/0028-3886.177628. No abstract available.

16.

Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy.

Ikeda H, Imai K, Ikeda H, Shigematsu H, Takahashi Y, Inoue Y, Higurashi N, Hirose S.

Epileptic Disord. 2016 Mar;18(1):26-33. doi: 10.1684/epd.2016.0803.

PMID:
26898795
17.

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

Lotte J, Bast T, Borusiak P, Coppola A, Cross JH, Dimova P, Fogarasi A, Graneß I, Guerrini R, Hjalgrim H, Keimer R, Korff CM, Kurlemann G, Leiz S, Linder-Lucht M, Loddenkemper T, Makowski C, Mühe C, Nicolai J, Nikanorova M, Pellacani S, Philip S, Ruf S, Sánchez Fernández I, Schlachter K, Striano P, Sukhudyan B, Valcheva D, Vermeulen RJ, Weisbrod T, Wilken B, Wolf P, Kluger G.

Seizure. 2016 Feb;35:106-10. doi: 10.1016/j.seizure.2016.01.006.

18.

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF.

Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404.

19.

PCDH19-related epilepsy in two mosaic male patients.

Terracciano A, Trivisano M, Cusmai R, De Palma L, Fusco L, Compagnucci C, Bertini E, Vigevano F, Specchio N.

Epilepsia. 2016 Mar;57(3):e51-5. doi: 10.1111/epi.13295.

PMID:
26765483
20.

Steroids efficacy in the acute management of seizure clusters in one case of PCDH19 female epilepsy.

Bertani G, Spagnoli C, Iodice A, Salerno GG, Frattini D, Fusco C.

Seizure. 2015 Nov;32:45-6. doi: 10.1016/j.seizure.2015.09.002. No abstract available.

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