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Epilepsy, familial adult myoclonic, 1(FAME1; BAFME1; FCMTE1)

MedGen UID:
371424
Concept ID:
C1832841
Disease or Syndrome
Synonyms: BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 1; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1; FAME1
 
Gene (location): SAMD12 (8q24.11-24.12)
 
Monarch Initiative: MONDO:0010985
OMIM®: 601068

Definition

Familial adult myoclonic epilepsy-1 (FAME1), also known as familial cortical myoclonic tremor associated with epilepsy-1 (FCMTE1), is characterized by autosomal dominant, adult-onset cortical myoclonus, with seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). FAME1 tends to occur in patients of southern Asian descent (summary by Bennett et al., 2020). Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy See also FAME2 (607876), caused by mutation in the STARD7 gene (616712) on chromosome 2q11; FAME3 (613608), caused by mutation in the MARCHF6 gene (613297) on chromosome 5p15; FAME4 (615127), which maps to chromosome 3q26.32-q28; FAME6 (618074), caused by mutation in the TNRC6A gene (610739) on chromosome 16p12; and FAME7 (618075), caused by mutation in the RAPGEF2 gene (609530) on chromosome 4. The disorder previously designated FAME5 has been reclassified as a type of autosomal recessive early-onset epilepsy (EPEO5; 615400). Progressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, 254800). [from OMIM]

Clinical features

From HPO
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
EEG with photoparoxysmal response
MedGen UID:
765735
Concept ID:
C3552821
Finding
EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.
Enhancement of the C-reflex
MedGen UID:
765738
Concept ID:
C3552824
Finding
Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.
Jerk-locked premyoclonus spikes
MedGen UID:
765739
Concept ID:
C3552825
Finding
Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Giant somatosensory evoked potentials
MedGen UID:
813291
Concept ID:
C3806961
Finding
An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.
Generalized myoclonic seizure
MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
EEG with irregular generalized spike and wave complexes
MedGen UID:
871304
Concept ID:
C4025792
Finding
EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.

Recent clinical studies

Etiology

Lin H, Hu N, Zhang Y, Wang Y, Macdonald RL
Neurosci Lett 2018 Sep 25;684:115-120. Epub 2018 Jul 9 doi: 10.1016/j.neulet.2018.07.014. PMID: 30003937
van Coller R, van Rootselaar AF, Schutte C, van der Meyden CH
Parkinsonism Relat Disord 2017 May;38:35-40. Epub 2017 Feb 21 doi: 10.1016/j.parkreldis.2017.02.016. PMID: 28237853
Gao L, Li L, Ye J, Zhu X, Shen N, Zhang X, Wang D, Gao Y, Lin H, Wang Y, Liu Y
Seizure 2016 Oct;41:81-5. Epub 2016 Jul 28 doi: 10.1016/j.seizure.2016.07.013. PMID: 27513994
Mahadevan R, Viswanathan N, Shanmugam G, Sankaralingam S, Essaki B, Chelladurai RP
Epilepsia 2016 Mar;57(3):e56-9. Epub 2016 Jan 8 doi: 10.1111/epi.13303. PMID: 26749494
Wang P, Luo C, Dong L, Bin Y, Ma S, Yao D, Guo F, Yang Z
J Neurol Sci 2015 Apr 15;351(1-2):133-139. Epub 2015 Mar 10 doi: 10.1016/j.jns.2015.03.005. PMID: 25796300

Diagnosis

Ding Y, Cen Z, Zheng Y, Qiu X, Ye Y, Chen X, Hu L, Wang B, Wang Z, Yin H, Shen C, Ming W, Ge Y, Xie F, Yang D, Ouyang Z, Wang H, Wu S, Ding M, Wang S, Luo W
Ann Clin Transl Neurol 2024 Feb;11(2):414-423. Epub 2023 Dec 7 doi: 10.1002/acn3.51961. PMID: 38059543Free PMC Article
Wang X, Wang B, Wang J, Zhang W, Zhu J, Cao Y, Liu Y
Epileptic Disord 2021 Apr 1;23(2):366-375. doi: 10.1684/epd.2021.1278. PMID: 33935025
Latorre A, Rocchi L, Magrinelli F, Mulroy E, Berardelli A, Rothwell JC, Bhatia KP
Brain 2020 Sep 1;143(9):2653-2663. doi: 10.1093/brain/awaa129. PMID: 32417917
Zhang Y, Xiong W, Lu L, Zhou D
Brain Res 2020 Jun 15;1737:146796. Epub 2020 Mar 17 doi: 10.1016/j.brainres.2020.146796. PMID: 32194077
Lei XX, Liu Q, Lu Q, Huang Y, Zhou XQ, Sun HY, Wu LW, Cui LY, Zhang X
Eur J Neurol 2019 Mar;26(3):513-518. Epub 2018 Nov 30 doi: 10.1111/ene.13848. PMID: 30351492

Prognosis

Ding Y, Cen Z, Zheng Y, Qiu X, Ye Y, Chen X, Hu L, Wang B, Wang Z, Yin H, Shen C, Ming W, Ge Y, Xie F, Yang D, Ouyang Z, Wang H, Wu S, Ding M, Wang S, Luo W
Ann Clin Transl Neurol 2024 Feb;11(2):414-423. Epub 2023 Dec 7 doi: 10.1002/acn3.51961. PMID: 38059543Free PMC Article
Lin H, Hu N, Zhang Y, Wang Y, Macdonald RL
Neurosci Lett 2018 Sep 25;684:115-120. Epub 2018 Jul 9 doi: 10.1016/j.neulet.2018.07.014. PMID: 30003937
van den Ende T, Sharifi S, van der Salm SMA, van Rootselaar AF
Tremor Other Hyperkinet Mov (N Y) 2018;8:503. Epub 2018 Jan 23 doi: 10.7916/D85155WJ. PMID: 29416935Free PMC Article
Striano P, Zara F
Epileptic Disord 2016 Sep 1;18(S2):139-144. doi: 10.1684/epd.2016.0860. PMID: 27618961
Gao L, Li L, Ye J, Zhu X, Shen N, Zhang X, Wang D, Gao Y, Lin H, Wang Y, Liu Y
Seizure 2016 Oct;41:81-5. Epub 2016 Jul 28 doi: 10.1016/j.seizure.2016.07.013. PMID: 27513994

Clinical prediction guides

Wang H, Wang B, Cen Z, Wang J, Zang YF, Yang D, Ding Y, Wang S, Wu S, Luo W
Parkinsonism Relat Disord 2022 Aug;101:105-110. Epub 2022 Jul 19 doi: 10.1016/j.parkreldis.2022.07.001. PMID: 35870251
Zhang Y, Xiong W, Lu L, Zhou D
Brain Res 2020 Jun 15;1737:146796. Epub 2020 Mar 17 doi: 10.1016/j.brainres.2020.146796. PMID: 32194077
Lin H, Hu N, Zhang Y, Wang Y, Macdonald RL
Neurosci Lett 2018 Sep 25;684:115-120. Epub 2018 Jul 9 doi: 10.1016/j.neulet.2018.07.014. PMID: 30003937
van Coller R, van Rootselaar AF, Schutte C, van der Meyden CH
Parkinsonism Relat Disord 2017 May;38:35-40. Epub 2017 Feb 21 doi: 10.1016/j.parkreldis.2017.02.016. PMID: 28237853
Buijink AW, Broersma M, van der Stouwe AM, Sharifi S, Tijssen MA, Speelman JD, Maurits NM, van Rootselaar AF
Cerebellum 2016 Dec;15(6):696-704. doi: 10.1007/s12311-015-0734-0. PMID: 26519379Free PMC Article

Recent systematic reviews

van den Ende T, Sharifi S, van der Salm SMA, van Rootselaar AF
Tremor Other Hyperkinet Mov (N Y) 2018;8:503. Epub 2018 Jan 23 doi: 10.7916/D85155WJ. PMID: 29416935Free PMC Article

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