Benign adult familial myoclonic epilepsy

Falco, Fabrizio Antonio de; Striano, Pasquale; Falco, Arturo de; Striano, Salvatore; Santangelo, Roberto; Perretti, A.; Balbi, Pietro; Cecconi, Massimiliano; Zara, Federico

doi:10.1212/01.wnl.0000055874.24000.4a

Cited by 71 publications

(96 citation statements)

References 9 publications

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“…However, as opposed to our findings in the South African patients, photosensitivity appears to be common in both FAME and ADCME. 4,5,[7][8][9] In FAME, MRI is generally reported to be normal, 6,9 whereas cerebellar atrophy, ranging from mild to severe, was found in 8 of 10 patients from the two families reported here. Mild cerebellar atrophy on MRI was seen in two of four patients in a Dutch family with FAME, and a 68-year-old patient from this family had cerebellar degeneration at autopsy.…”

Section: Discussionmentioning

confidence: 60%

“…[4][5][6]8,9,17 Compared with the disease in the South African families, the seizures associated with FAME may occur at a later age. 6,8,17 The EEG background is normal in ADCME and some family members with FAME have normal EEGs, 6,9,18 whereas abnormal EEG backgrounds and abundant polyspike discharges were the rule in the patients described in this report. However, as opposed to our findings in the South African patients, photosensitivity appears to be common in both FAME and ADCME.…”

Section: Discussionmentioning

confidence: 99%

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Carr¹,

Walt²,

Nakayama³

et al. 2007

Neurology

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Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 99%

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Carr¹,

Walt²,

Nakayama³

et al. 2007

Neurology

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“…A genetic locus for generalized epilepsy with febrile seizures plus (GEFS + ) was located at 2p24 (Audenaert et al 2005). A locus for benign adult familial myoclonic epilepsy (BAFME) is known to map at 2p11.1-q12.2 (Guerrini et al 2001;Labauge et al 2002;de Falco et al 2003;Madia et al 2008). FEB3, a locus for febrile seizures is known to map at the 2q23-q24 region (PeiVer et al 1999).…”

Section: Discussionmentioning

confidence: 99%

A locus for juvenile myoclonic epilepsy maps to 2q33–q36

et al. 2010

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We performed a whole genome linkage analysis in a three-generation south Indian family with multiple members affected with juvenile myoclonic epilepsy (JME). The maximum two-point LOD score obtained was 3.32 at recombination fraction (theta) = 0 for D2S2248. The highest multipoint score of 3.59 was observed for the genomic interval between D2S2322 and D2S2228 at the chromosomal region 2q33-q36. Proximal and distal boundaries of the critical genetic interval were defined by D2S116 and D2S2390, respectively. A 24-Mb haplotype was found to co-segregate with JME in the family. While any potentially causative variant in the functional candidate genes, SLC4A3, SLC23A3, SLC11A1 and KCNE4, was not detected, we propose to examine brain-expressed NRP2, MAP2, PAX3, GPR1, TNS1 and DNPEP, and other such positional candidate genes to identify the disease-causing gene for the disorder.

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“…1,2 Historically, various names have been given to the syndrome that show cortical myoclonic tremor and epilepsy: hereditary tremor with epileptiform seizures, 3 heredofamilial tremor and epilepsy, 4 cortical tremor, 5 familial essential myoclonus and epilepsy, 6 BAFME, 1 familial adult myoclonic epilepsy (FAME), 7 familial benign myoclonus epilepsy of adult onset, 8 familial cortical tremor with epilepsy, 9 autosomal dominant cortical myoclonus and epilepsy 10 and familial cortical myoclonic tremor with epilepsy (FCMTE). 11 Previous genetic studies, including our earlier report, 2 identified three different chromosomal loci, 8q 2,12 (BAFME, FCMTE1), 2p 10,13,14 (FCMTE2) and 5p 15 (FCMTE3) in Japanese, Italian and French pedigrees, respectively. The European patients seemed to show a more progressive disease course than Japanese patients.…”

Section: Introductionmentioning

confidence: 86%

Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree

et al. 2011

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Benign adult familial myoclonic epilepsy (BAFME), alternatively named familial adult myoclonic epilepsy 1/familial cortical myoclonic tremor with epilepsy 1 (FAME1/FCMTE1), is a hereditary epileptic syndrome characterized by autosomal dominant inheritance, adult-onset tremulous hand movement, myoclonus, infrequent epileptic seizure and non-progressive course without cerebellar ataxia and dementia. We previously reported evidence for linkage of BAFME to the region between D8S1784 and D8S1694 on chromosome 8q. Subsequently, other research groups reported mapping of the same clinical syndrome to different chromosomal loci, 2p and 5p, in Italian (FAME2/FCMTE2) and French (FAME3/FCMTE3) families, respectively. In this study, we performed a genome-wide linkage analysis using 10K single-nucleotide polymorphism arrays and additional microsatellite markers to reconfirm the BAFME-linked region. The BAFME-linked region was mapped to 7.16 Mb spanned by rs1898287 and rs2891799 on chromosomes 8q23.3-8q24.13 with a maximum two-point logarithm of odds score of 6.0 for the marker rs1021897. Sequence analysis and copy-number variant analysis of all 38 genes localized in the candidate region were performed, but no pathogenic mutation was identified. We conclude that the etiology of BAFME remains to be solved, and further genetic studies, which may require analysis in non-coding regions of a gene, introns or intergenic spacer regions, are necessary to reveal its unknown mutations.

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Benign adult familial myoclonic epilepsy

Cited by 71 publications

References 9 publications

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A locus for juvenile myoclonic epilepsy maps to 2q33–q36

Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree

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