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Results: 1 to 20 of 102

1.

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.

Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A.

Neurology. 2006 Dec 12;67(11):2029-31.

PMID:
17159113
[PubMed - indexed for MEDLINE]
2.

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]
3.

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.

Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A.

Ann Neurol. 2008 Aug;64(2):158-67. doi: 10.1002/ana.21428.

PMID:
18756473
[PubMed - indexed for MEDLINE]
4.

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Saint-Martin C, Gauvain G, Teodorescu G, Gourfinkel-An I, Fedirko E, Weber YG, Maljevic S, Ernst JP, Garcia-Olivares J, Fahlke C, Nabbout R, LeGuern E, Lerche H, Poncer JC, Depienne C.

Hum Mutat. 2009 Mar;30(3):397-405. doi: 10.1002/humu.20876.

PMID:
19191339
[PubMed - indexed for MEDLINE]
5.

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]
6.

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.

Stogmann E, Lichtner P, Baumgartner C, Schmied M, Hotzy C, Asmus F, Leutmezer F, Bonelli S, Assem-Hilger E, Vass K, Hatala K, Strom TM, Meitinger T, Zimprich F, Zimprich A.

Neurogenetics. 2006 Nov;7(4):265-8. Epub 2006 Aug 24.

PMID:
16932951
[PubMed - indexed for MEDLINE]
7.

Genetics of idiopathic generalized epilepsies.

Gardiner M.

Epilepsia. 2005;46 Suppl 9:15-20. Review.

PMID:
16302872
[PubMed - indexed for MEDLINE]
8.

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]
9.

Seizures of idiopathic generalized epilepsies.

Durón RM, Medina MT, Martínez-Juárez IE, Bailey JN, Perez-Gosiengfiao KT, Ramos-Ramírez R, López-Ruiz M, Alonso ME, Ortega RH, Pascual-Castroviejo I, Machado-Salas J, Mija L, Delgado-Escueta AV.

Epilepsia. 2005;46 Suppl 9:34-47. Review.

PMID:
16302874
[PubMed - indexed for MEDLINE]
10.

The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.

Haug K, Hallmann K, Rebstock J, Dullinger J, Muth S, Haverkamp F, Pfeiffer H, Rau B, Elger CE, Propping P, Heils A.

Epilepsy Res. 2001 Dec;47(3):243-6.

PMID:
11738931
[PubMed - indexed for MEDLINE]
11.

Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy.

Khosravani H, Bladen C, Parker DB, Snutch TP, McRory JE, Zamponi GW.

Ann Neurol. 2005 May;57(5):745-9.

PMID:
15852375
[PubMed - indexed for MEDLINE]
12.

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]
13.

Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.

Lachance-Touchette P, Martin C, Poulin C, Gravel M, Carmant L, Cossette P.

Epilepsia. 2010 Sep;51(9):1894-7. doi: 10.1111/j.1528-1167.2010.02642.x.

PMID:
20550555
[PubMed - indexed for MEDLINE]
14.

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.

Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11.

PMID:
17561957
[PubMed - indexed for MEDLINE]
15.

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]
16.

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
17.

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.

Hahn A, Neubauer BA.

Brain Dev. 2009 Aug;31(7):515-20. doi: 10.1016/j.braindev.2009.04.012. Epub 2009 May 22. Review.

PMID:
19464834
[PubMed - indexed for MEDLINE]
18.

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A.

Nat Genet. 2003 Apr;33(4):527-32. Epub 2003 Mar 3. Retraction in: Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H. Nat Genet. 2009 Sep;41(9):1043.

PMID:
12612585
[PubMed - indexed for MEDLINE]
19.

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT.

Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489.

PMID:
18413471
[PubMed - indexed for MEDLINE]
20.

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

Scheffer IE, Zhang YH, Jansen FE, Dibbens L.

Brain Dev. 2009 May;31(5):394-400. doi: 10.1016/j.braindev.2009.01.001. Epub 2009 Feb 8. Review.

PMID:
19203856
[PubMed - indexed for MEDLINE]

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