Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes [2]

Neurogenetics

Volumn 9, Issue 1, 2008, Pages 69-71

  Saint Martin, Cécile ^a,b   Bouteiller, Delphine ^a,b   Stevanin, Giovanni ^a,b   Popescu, Cyprian ^a,b   Charon, Céline ^c   Ruberg, Merle ^a,b   Baulac, Stéphanie ^a,b   LeGuern, Eric ^a,b,d   Labauge, Pierre ^e   Depienne, Christel ^a,b,d  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b Federative Institute for Neuroscience Research (IFR70)   (France)

^c CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e DEPARTMENT OF NEUROLOGY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 2P; CHROMOSOME 8Q; DISEASE ASSOCIATION; DNA POLYMORPHISM; EPILEPSY; GENE LOCUS; GENE MUTATION; GENOME; HAPLOTYPE; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL; TREMOR;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; EPILEPSIES, MYOCLONIC; EPILEPSY; ESSENTIAL TREMOR; FEMALE; GENES, DOMINANT; HUMANS; LOD SCORE; MALE; PEDIGREE;

EID: 38649087055     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-007-0107-z     Document Type: Letter

References (6)

1. van Rootselaar AF, van Schaik IN, van den Maagdenberg AM, Koelman JH, Callenbach PM, Tijssen MA (2005) Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features. Mov Disord 20:665-673
2. Mikami M, Yasuda T, Terao A, Nakamura M, Ueno S, Tanabe H, Tanaka T, Onuma T, Goto Y, Kaneko S, Sano A (1999) Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet 65:745-751
3. Guerrini R, Bonanni P, Patrignani A, Brown P, Parmeggiani L, Grosse P, Brovedani P, Moro F, Aridon P, Carrozzo R, Casari G (2001) 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 124:2459-2475
4. Labauge P, Amer LO, Simonetta-Moreau M, Attane F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E (2002) Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). Neurology 58:941-944
5. de Falco FA, Striano P, de Falco A, Striano S, Santangelo R, Perretti A, Balbi P, Cecconi M, Zara F (2003) Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. Neurology 60:1381-1385
6. Striano P, Chifari R, Striano S, de Fusco M, Elia M, Guerrini R, Casari G, Canevini MP (2004) A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2. Epilepsia 45:190-192