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Results: 1 to 20 of 106

1.

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

Krabichler B, Rostasy K, Baumann M, Karall D, Scholl-Bürgi S, Schwarzer C, Gautsch K, Spreiz A, Kotzot D, Zschocke J, Fauth C, Haberlandt E.

Ann Hum Genet. 2012 Jul;76(4):326-31. doi: 10.1111/j.1469-1809.2012.00710.x. Epub 2012 May 21.

PMID:
22606975
[PubMed - indexed for MEDLINE]
2.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke JR, Alber M, Palotie A, Kopra O, Lehesjoki AE.

J Med Genet. 2012 Jun;49(6):391-9. doi: 10.1136/jmedgenet-2012-100859.

PMID:
22693283
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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]
4.

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, Rupar CA, Prasad AN; FORGE Canada Consortium, Hegele RA.

Epilepsia. 2014 Sep;55(9):e106-11. doi: 10.1111/epi.12730. Epub 2014 Jul 24.

PMID:
25060828
[PubMed - indexed for MEDLINE]
5.

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ.

Mol Neurobiol. 2011 Aug;44(1):111-21. doi: 10.1007/s12035-011-8194-0. Epub 2011 Jun 28.

PMID:
21710140
[PubMed - indexed for MEDLINE]
6.

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL.

Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28.

PMID:
22748208
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.

Blumkin L, Kivity S, Lev D, Cohen S, Shomrat R, Lerman-Sagie T, Leshinsky-Silver E.

J Neurol. 2012 Dec;259(12):2590-8. doi: 10.1007/s00415-012-6545-z. Epub 2012 May 26.

PMID:
22638565
[PubMed - indexed for MEDLINE]
8.

The molecular genetic bases of the progressive myoclonus epilepsies.

Serratosa JM, Gardiner RM, Lehesjoki AE, Pennacchio LA, Myers RM.

Adv Neurol. 1999;79:383-98. Review.

PMID:
10514828
[PubMed - indexed for MEDLINE]
9.

Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.

Duru N, Iseri SA, Selçuk N, Tolun A.

J Neurogenet. 2010 Dec;24(4):207-15. doi: 10.3109/01677063.2010.514368.

PMID:
21087195
[PubMed - indexed for MEDLINE]
10.

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.

Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P.

J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):90-3. doi: 10.1136/jnnp.2008.157354.

PMID:
20019223
[PubMed - indexed for MEDLINE]
11.

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

Rubboli G, Franceschetti S, Berkovic SF, Canafoglia L, Gambardella A, Dibbens LM, Riguzzi P, Campieri C, Magaudda A, Tassinari CA, Michelucci R.

Epilepsia. 2011 Dec;52(12):2356-63. doi: 10.1111/j.1528-1167.2011.03307.x. Epub 2011 Nov 2.

PMID:
22050460
[PubMed - indexed for MEDLINE]
12.

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J.

Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001. Epub 2012 Jun 14.

PMID:
22703880
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.

Delgado-Escueta AV, Bourgeois BF.

Epilepsia. 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. Review.

PMID:
19087113
[PubMed - indexed for MEDLINE]
14.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5.

PMID:
21549339
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI.

Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30.

PMID:
18976727
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF.

Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765.

PMID:
19847901
[PubMed - indexed for MEDLINE]
17.

Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.

Zsurka G, Becker F, Heinen M, Gdynia HJ, Lerche H, Kunz WS, Weber YG.

Seizure. 2013 Jul;22(6):483-6. doi: 10.1016/j.seizure.2013.03.003. Epub 2013 Apr 16.

PMID:
23601850
[PubMed - indexed for MEDLINE]
Free Article
18.

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE.

Eur J Hum Genet. 2005 Feb;13(2):208-15. Erratum in: Eur J Hum Genet. 2005 Feb;13(2):264.

PMID:
15483648
[PubMed - indexed for MEDLINE]
Free Article
19.

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.

Karkheiran S, Krebs CE, Makarov V, Nilipour Y, Hubert B, Darvish H, Frucht S, Shahidi GA, Buxbaum JD, Paisán-Ruiz C.

Hum Genet. 2013 Mar;132(3):275-83. doi: 10.1007/s00439-012-1248-1. Epub 2012 Nov 9.

PMID:
23138527
[PubMed - indexed for MEDLINE]
20.

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P.

Am J Hum Genet. 2001 Jun;68(6):1327-32. Epub 2001 May 15.

PMID:
11359211
[PubMed - indexed for MEDLINE]
Free PMC Article
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