Familial adult myoclonic epilepsy

Definition:

Familial adult myoclonic epilepsy (FAME), also known as benign adult familial myoclonic epilepsy (BAFME), is an autosomal dominant disorder characterized by adult-onset tremulous hand movement, infrequent epileptic seizure and non-progressive course without cerebellar ataxia and dementia. It has been suggested that abnormal expansions of TTTCA and TTTTA repeats in introns of SAMD12, TNRC6A and RAPGEF2 cause this disease. Recently, Autosomal recessive form with a mutation in CNTN2 gene has been reported.

References:

[1]. Elisabeth Stogmann, et al. Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain. 2013 Apr;136(Pt 4):1155-60. [Content Brief]

[2]. Hiroyuki Ishiura, et al. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet. 2018 Apr;50(4):581-590. [Content Brief]

[3]. Mark A Corbett, et al. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nat Commun. 2019 Oct 29;10(1):4920. [Content Brief]

[4]. P Labauge, et al. Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). Neurology. 2002 Mar 26;58(6):941-4. [Content Brief]

[5]. Patra Yeetong, et al. TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4. Brain. 2019 Nov 1;142(11):3360-3366. [Content Brief]

[6]. Rahel T Florian, et al. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nat Commun. 2019 Oct 29;10(1):4919. [Content Brief]

[7]. Satsuki Mori, et al. Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. J Hum Genet. 2011 Oct;56(10):742-7. [Content Brief]

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