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Items: 1 to 20 of 114

1.

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.

2.

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.

3.

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA.

Brain. 2016 Dec;139(Pt 12):3109-3120. Epub 2016 Oct 14.

PMID:
27742667
4.

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
5.

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.

6.

KCTD7-related progressive myoclonus epilepsy.

Van Bogaert P.

Epileptic Disord. 2016 Sep 1;18(S2):115-119. Review.

PMID:
27629772
7.

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

El-Shanti H, Daoud A, Sadoon AA, Leal SM, Chen S, Lee K, Spiegel R.

Brain Dev. 2006 Jul;28(6):353-7. Epub 2006 Jan 10.

PMID:
16376507
8.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF.

Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28.

PMID:
23449775
9.

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG.

Brain. 1999 May;122 ( Pt 5):817-25. Erratum in: Brain. 2007 Mar;130(Pt 3):879. Stephenson, J P [corrected to Stephenson, J B]. Brain. 2010 May;133(Pt 5):1569.

PMID:
10355668
10.

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.

11.

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
12.

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A.

J Neurol. 2005 Aug;252(8):897-900. Epub 2005 Mar 8.

PMID:
15742102
13.

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.

14.

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.

15.

Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.

Nascimento FA, Andrade DM.

Epileptic Disord. 2016 Sep 1;18(S2):135-138. Review.

PMID:
27629860
16.

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

Miyamoto R, Morino H, Yoshizawa A, Miyazaki Y, Maruyama H, Murakami N, Fukada K, Izumi Y, Matsuura S, Kaji R, Kawakami H.

J Neurol Sci. 2014 Feb 15;337(1-2):219-23. doi: 10.1016/j.jns.2013.11.032. Epub 2013 Dec 1.

PMID:
24332946
17.

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
18.

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

Rubboli G, Veggiotti P, Pini A, Berardinelli A, Cantalupo G, Bertini E, Tiziano FD, D'Amico A, Piazza E, Abiusi E, Fiori S, Pasini E, Darra F, Gobbi G, Michelucci R.

Epilepsia. 2015 May;56(5):692-8. doi: 10.1111/epi.12977. Epub 2015 Apr 3.

19.

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
20.

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

Pena SD, Coimbra RL.

Clin Genet. 2015 Feb;87(2):e1-3. doi: 10.1111/cge.12542.

PMID:
25477152

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