Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 122

1.

'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.

PMID:
23449775
2.

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.

3.

Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.

van Egmond ME, Verschuuren-Bemelmans CC, Nibbeling EA, Elting JW, Sival DA, Brouwer OF, de Vries JJ, Kremer HP, Sinke RJ, Tijssen MA, de Koning TJ.

Mov Disord. 2014 Jan;29(1):139-43. doi: 10.1002/mds.25704.

PMID:
24458321
4.

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.

5.

Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.

Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, Andermann F, Andermann E.

Brain. 2004 Oct;127(Pt 10):2173-82.

PMID:
15364701
6.

GOSR2: a progressive myoclonus epilepsy gene.

Dibbens LM, Rubboli G.

Epileptic Disord. 2016 Sep 1;18(S2):111-114.

PMID:
27618868
7.

Pattern-sensitive epilepsy: electroclinical characteristics, natural history, and delineation of the epileptic syndrome.

Radhakrishnan K, St Louis EK, Johnson JA, McClelland RL, Westmoreland BF, Klass DW.

Epilepsia. 2005 Jan;46(1):48-58.

8.

Myoclonic-astatic epilepsy of early childhood--clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome.

Oguni H, Fukuyama Y, Tanaka T, Hayashi K, Funatsuka M, Sakauchi M, Shirakawa S, Osawa M.

Brain Dev. 2001 Nov;23(7):757-64. Review.

PMID:
11701290
9.

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.

10.

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.

Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J.

BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134.

11.

[Unverricht-Lundborg disease (PME1)].

Genton P.

Rev Neurol (Paris). 2006 Sep;162(8-9):819-26. Review. French.

PMID:
17028542
12.

Myoclonus and epilepsies.

Fejerman N.

Indian J Pediatr. 1997 Sep-Oct;64(5):583-602. Review.

PMID:
10771893
13.

Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings.

Kyllerman M, Sommerfelt K, Hedström A, Wennergren G, Holmgren D.

Epilepsia. 1991 Nov-Dec;32(6):900-9.

PMID:
1743164
14.

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.

15.

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India.

Sinha S, Satishchandra P, Gayathri N, Yasha TC, Shankar SK.

J Neurol Sci. 2007 Jan 15;252(1):16-23.

PMID:
17166519
16.
17.

Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis.

Kaminska A, Ickowicz A, Plouin P, Bru MF, Dellatolas G, Dulac O.

Epilepsy Res. 1999 Aug;36(1):15-29.

PMID:
10463847
18.

Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?

Taylor I, Marini C, Johnson MR, Turner S, Berkovic SF, Scheffer IE.

Brain. 2004 Aug;127(Pt 8):1878-86.

PMID:
15201194
19.

Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics.

Marini C, King MA, Archer JS, Newton MR, Berkovic SF.

J Neurol Neurosurg Psychiatry. 2003 Feb;74(2):192-6.

20.

Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family.

Magnin E, Vidailhet M, Depienne C, Saint-Martin C, Bouteiller D, LeGuern E, Apartis E, Rumbach L, Labauge P.

Rev Neurol (Paris). 2009 Oct;165(10):812-20. doi: 10.1016/j.neurol.2009.05.014.

PMID:
19616813
Items per page

Supplemental Content

Support Center