Familial adult myoclonic epilepsy: Recognition of mild phenotypes and refinement of the 2q locus

Archives of Neurology

Volumn 69, Issue 4, 2012, Pages 474-481

  Crompton, Douglas E ^a,b   Sadleir, Lynette G ^a,c   Bromhead, Catherine J ^d   Bahlo, Melanie ^a,d   Bellows, Susannah T ^a   Arsov, Todor ^a   Harty, Rosemary ^a   Lawrence, Kate M ^a   Dunne, John W ^a,e   Berkovic, Samuel F ^a   Scheffer, Ingrid E ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF OTAGO   (New Zealand)

^d WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^e ROYAL PERTH HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CLOBAZAM; CLONAZEPAM; LORAZEPAM; PHENYTOIN; VALPROIC ACID;

ADULT; AGED; ARTICLE; CHROMOSOME 2Q; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; ESSENTIAL TREMOR; FAME GENE; FAMILIAL ADULT MYOCLONUS EPILEPSY; FAMILY HISTORY; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC CODE; HAND TREMOR; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MYOCLONUS; MYOCLONUS EPILEPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; TONIC CLONIC SEIZURE;

ADOLESCENT; ADULT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EPILEPSIES, MYOCLONIC; EVOKED POTENTIALS, SOMATOSENSORY; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; HUMANS; ITALY; MALE; MEMORY DISORDERS; MIDDLE AGED; PHENOTYPE; RECOGNITION (PSYCHOLOGY); REFLEX; TREMOR; YOUNG ADULT;

EID: 84859947795     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.584     Document Type: Article

References (37)

1. Ikeda A, Kakigi R, Funai N, Neshige R, Kuroda Y, Shibasaki H. Cortical tremor: a variant of cortical reflex myoclonus. Neurology. 1990;40(10):1561- 1565. (Pubitemid 20351350)
2. Shibasaki H. Electrophysiological studies of myoclonus. Muscle Nerve. 2000;23 (3):321-335. (Pubitemid 30126977)
3. van Rootselaar F, Callenbach PM, Hottenga JJ, et al. A Dutch family with "familial cortical tremor with epilepsy": clinical characteristics and exclusion of linkage to chromosome 8q23.3-q24.1. J Neurol. 2002;249(7):829-834. (Pubitemid 34754218)
4. Guerrini R, Bonanni P, Patrignani A, et al. Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. Brain. 2001;124(pt 12):2459-2475. (Pubitemid 33134935)
5. Elia M, Musumeci SA, Ferri R, et al. Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity? Arch Neurol. 1998;55(12):1569-1573.
6. Saka E, Saygi S. Familial adult onset myoclonic epilepsy associated with migraine. Seizure. 2000;9(5):344-346.
7. Manabe Y, Narai H, Warita H, et al. Benign adult familial myoclonic epilepsy (BAFME) with night blindness. Seizure. 2002;11(4):266-268. (Pubitemid 34752581)
8. Striano P, Zara F, Striano S. Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype. Acta Neurol Scand. 2005;111(4):211-217. (Pubitemid 40380454)
9. van Rootselaar AF, van Schaik IN, van den Maagdenberg AM, Koelman JH, Callenbach PM, Tijssen MA. Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features. Mov Disord. 2005;20(6):665-673.
10. Mikami M, Yasuda T, Terao A, et al. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet. 1999; 65(3):745-751. (Pubitemid 30468719)
11. Plaster NM, Uyama E, Uchino M, et al. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology. 1999;53(6):1180-1183. (Pubitemid 29480072)
12. de Falco FA, Striano P, de Falco A, et al. Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. Neurology. 2003;60(8):1381-1385. (Pubitemid 36469317)
13. Gardella E, Tinuper P, Marini C, et al. Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. Epilepsia. 2006;47(10):1643-1649. (Pubitemid 44556398)
14. Labauge P, Amer LO, Simonetta-Moreau M, et al. Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). Neurology. 2002; 58(6):941-944. (Pubitemid 34242072)
15. Magnin E, Vidailhet M, Depienne C, et al. Familial cortical myoclonic tremor with epilepsy (FCMTE): clinical characteristics and exclusion of linkages to 8q and 2p in a large French family. Rev Neurol (Paris). 2009;165(10):812- 820.
16. Striano P, Chifari R, Striano S, et al. A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2. Epilepsia. 2004;45(2):190-192. (Pubitemid 38174127)
17. Striano P, Madia F, Minetti C, Striano S, Zara F. Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy. Epilepsia. 2005; 46(12):1993-1995. (Pubitemid 44922012)
18. Suppa A, Berardelli A, Brancati F, et al. Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. Epilepsia. 2009;50(5):1284-1288.
19. Madia F, Striano P, Di Bonaventura C, et al. Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. Neurogenetics. 2008;9(2):139-142.
20. Saint-Martin C, Bouteiller D, Stevanin G, et al. Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes. Neurogenetics. 2008;9(1):69-71.
21. Deng FY, Gong J, Zhang YC, et al. Absence of linkage to 8q23.3-q24.1 and 2p11.1- q12.2 in a new BAFME pedigree in China: indication of a third locus for BAFME. Epilepsy Res. 2005;65(3):147-152. (Pubitemid 41187567)
22. Depienne C, Magnin E, Bouteiller D, et al. Familial corticalmyoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. Neurology. 2010;74(24):2000-2003.
23. Reutens DC, Howell RA, Gebert KE, Berkovic SF. Validation of a questionnaire for clinical seizure diagnosis. Epilepsia. 1992;33(6):1065-1071. (Pubitemid 23005266)
24. Bahlo M, Bromhead CJ. Generating linkage mapping files from Affymetrix SNP chip data. Bioinformatics. 2009;25(15):1961-1962.
25. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30(1):97-101.
26. George AW, Wijsman EM, Thompson EA. MCMC multilocus lod scores: application of a new approach. Hum Hered. 2005;59(2):98-108. (Pubitemid 40874845)
27. UW Statistics. MORGAN. http://www.stat.washington.edu/thompson/Genepi /MORGAN/Morgan.shtml. Accessed January 13, 2012.
28. Thiele H, Nurnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics. 2005;21(8):1730-1732. (Pubitemid 40542746)
29. Bourdain F, Apartis E, Trocello JM, et al. Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor. Mov Disord. 2006;21(5):599-608.
30. van Rootselaar AF, Aronica E, Jansen Steur EN, Rozemuller-Kwakkel JM, de Vos RA, Tijssen MA. Familial cortical tremor with epilepsy and cerebellar pathological findings. Mov Disord. 2004;19(2):213-217.
31. van Rootselaar AF, van der Salm SM, Bour LJ, et al. Decreased cortical inhibition and yet cerebellar pathology in "familial cortical myoclonic tremor with epilepsy." Mov Disord. 2007;22(16):2378-2385.
32. Louis ED. Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry. Lancet Neurol. 2010;9(6):613-622.
33. Seelow D, Schwarz JM, Schuelke M. GeneDistiller-distilling candidate genes from linkage intervals. PLoS One. 2008;3(12):e3874. Accessed January 13, 2012.
34. Tomita H, Nagamitsu S, Wakui K, et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet. 1999;65(6):1688-1697.
35. Hodges E, Rooks M, Xuan Z, et al. Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing. Nat Protoc. 2009;4(6):960-974.
36. Wang JL, Cao L, Li X, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain. 2011;134(12):3490-3498.
37. Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet. 2012;90(1):152-160.