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Results: 1 to 20 of 91

1.

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Berger I, Dor T, Halvardson J, Edvardson S, Shaag A, Feuk L, Elpeleg O.

Epilepsia. 2012 Aug;53(8):1436-40. doi: 10.1111/j.1528-1167.2012.03536.x. Epub 2012 Jun 12.

PMID:
22690745
[PubMed - indexed for MEDLINE]
2.

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

Bai D, Bailey JN, Durón RM, Alonso ME, Medina MT, Martínez-Juárez IE, Suzuki T, Machado-Salas J, Ramos-Ramírez R, Tanaka M, Ortega RH, López-Ruiz M, Rasmussen A, Ochoa A, Jara-Prado A, Yamakawa K, Delgado-Escueta AV.

Epilepsia. 2009 May;50(5):1184-90. doi: 10.1111/j.1528-1167.2008.01762.x.

PMID:
18823326
[PubMed - indexed for MEDLINE]
3.

Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.

Norberg A, Forsgren L, Holmberg D, Holmberg M.

Neurosci Lett. 2006 Mar 27;396(2):137-42. Epub 2005 Dec 27.

PMID:
16378686
[PubMed - indexed for MEDLINE]
4.

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8.

PMID:
18055821
[PubMed - indexed for MEDLINE]
Free Article
5.

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL.

Am J Hum Genet. 2014 Jun 5;94(6):891-7. doi: 10.1016/j.ajhg.2014.04.012. Epub 2014 May 8.

PMID:
24814191
[PubMed - indexed for MEDLINE]
6.

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

Van Bogaert P, Azizieh R, Désir J, Aeby A, De Meirleir L, Laes JF, Christiaens F, Abramowicz MJ.

Ann Neurol. 2007 Jun;61(6):579-86.

PMID:
17455289
[PubMed - indexed for MEDLINE]
7.

Mutations in EFHC1 cause juvenile myoclonic epilepsy.

Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K.

Nat Genet. 2004 Aug;36(8):842-9. Epub 2004 Jul 18.

PMID:
15258581
[PubMed - indexed for MEDLINE]
8.

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

Uusimaa J, Gowda V, McShane A, Smith C, Evans J, Shrier A, Narasimhan M, O'Rourke A, Rajabally Y, Hedderly T, Cowan F, Fratter C, Poulton J.

Epilepsia. 2013 Jun;54(6):1002-11. doi: 10.1111/epi.12115. Epub 2013 Feb 28.

PMID:
23448099
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.

de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B.

Hum Mol Genet. 2012 Dec 1;21(23):5106-17. doi: 10.1093/hmg/dds356. Epub 2012 Aug 27.

PMID:
22926142
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.

Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A.

Hum Mutat. 2012 Jan;33(1):124-35. doi: 10.1002/humu.21613. Epub 2011 Oct 31.

PMID:
21922598
[PubMed - indexed for MEDLINE]
11.

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, Lepiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A.

Epilepsia. 2007 Sep;48(9):1686-90. Epub 2007 Jul 18.

PMID:
17634063
[PubMed - indexed for MEDLINE]
12.

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH.

Am J Hum Genet. 2001 Apr;68(4):866-73. Epub 2001 Mar 14.

PMID:
11254445
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.

Medina MT, Suzuki T, Alonso ME, Durón RM, Martínez-Juárez IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa A, Prado AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, Delgado-Escueta AV.

Neurology. 2008 May 27;70(22 Pt 2):2137-44. doi: 10.1212/01.wnl.0000313149.73035.99.

PMID:
18505993
[PubMed - indexed for MEDLINE]
14.

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

Connell F, Kalidas K, Ostergaard P, Brice G, Homfray T, Roberts L, Bunyan DJ, Mitton S, Mansour S, Mortimer P, Jeffery S; Lymphoedema Consortium.

Hum Genet. 2010 Feb;127(2):231-41. doi: 10.1007/s00439-009-0766-y. Epub 2009 Nov 13. Erratum in: Hum Genet. 2010 Feb;127(2):243.

PMID:
19911200
[PubMed - indexed for MEDLINE]
15.

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.

Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH.

Brain. 2007 Jul;130(Pt 7):1929-41. Epub 2007 May 23.

PMID:
17522105
[PubMed - indexed for MEDLINE]
Free Article
16.

Sacred disease secrets revealed: the genetics of human epilepsy.

Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA.

Hum Mol Genet. 2005 Sep 1;14(17):2491-500. Epub 2005 Jul 27. Review. Corrected and republished in: Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:2491-2500.

PMID:
16049035
[PubMed - indexed for MEDLINE]
Free Article
17.

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.

Pinto D, Louwaars S, Westland B, Volkers L, de Haan GJ, Trenité DG, Lindhout D, Koeleman BP.

Epilepsia. 2006 Oct;47(10):1743-6.

PMID:
17054699
[PubMed - indexed for MEDLINE]
18.

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ.

J Hum Genet. 2011 Dec;56(12):834-9. doi: 10.1038/jhg.2011.112. Epub 2011 Oct 20.

PMID:
22011815
[PubMed - indexed for MEDLINE]
19.

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

Jara-Prado A, Martínez-Juárez IE, Ochoa A, González VM, Fernández-González-Aragón Mdel C, López-Ruiz M, Medina MT, Bailey JN, Delgado-Escueta AV, Alonso ME.

Seizure. 2012 Sep;21(7):550-4. doi: 10.1016/j.seizure.2012.05.016. Epub 2012 Jun 22.

PMID:
22727576
[PubMed - indexed for MEDLINE]
Free Article
20.

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA.

Ann Neurol. 2013 Dec;74(6):873-82. doi: 10.1002/ana.23998.

PMID:
24596948
[PubMed - indexed for MEDLINE]

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