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Epilepsy, familial adult myoclonic, 6(FAME6; BAFME6; FCMTE6)

MedGen UID:
1648448
•Concept ID:
C4748079
•
Disease or Syndrome
Synonyms: BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 6; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 6
 
Gene (location): TNRC6A (16p12.1)
 
Monarch Initiative: MONDO:0054846
OMIM®: 618074

Clinical features

From HPO
Myoclonic tremor
MedGen UID:
1739193
•Concept ID:
C5421572
•
Disease or Syndrome
A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Efficacy and safety of six new antiseizure medications for adjunctive treatment of focal epilepsy and epileptic syndrome: A systematic review and network meta-analysis.
Tong J, Ji T, Liu T, Liu J, Chen Y, Li Z, Lu N, Li Q
Epilepsy Behav 2024 Mar;152:109653. Epub 2024 Jan 25 doi: 10.1016/j.yebeh.2024.109653. PMID: 38277848
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J
Neurology 2018 Jul 10;91(2):82-90. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005756. PMID: 29898974
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM
Neurology 2016 Jul 5;87(1):77-85. Epub 2016 Jun 8 doi: 10.1212/WNL.0000000000002807. PMID: 27281533Free PMC Article

Recent clinical studies

Etiology

Clinical efficacy and safety of cannabidiol for pediatric refractory epilepsy indications: A systematic review and meta-analysis.
Talwar A, Estes E, Aparasu R, Reddy DS
Exp Neurol 2023 Jan;359:114238. Epub 2022 Oct 4 doi: 10.1016/j.expneurol.2022.114238. PMID: 36206805
Cannabis effects on brain structure, function, and cognition: considerations for medical uses of cannabis and its derivatives.
Burggren AC, Shirazi A, Ginder N, London ED
Am J Drug Alcohol Abuse 2019;45(6):563-579. Epub 2019 Jul 31 doi: 10.1080/00952990.2019.1634086. PMID: 31365275Free PMC Article
Efficacy and Safety of Cannabidiol in Epilepsy: A Systematic Review and Meta-Analysis.
Lattanzi S, Brigo F, Trinka E, Zaccara G, Cagnetti C, Del Giovane C, Silvestrini M
Drugs 2018 Nov;78(17):1791-1804. doi: 10.1007/s40265-018-0992-5. PMID: 30390221
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM
Neurology 2016 Jul 5;87(1):77-85. Epub 2016 Jun 8 doi: 10.1212/WNL.0000000000002807. PMID: 27281533Free PMC Article
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.
Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, Miller I, Flamini R, Wilfong A, Filloux F, Wong M, Tilton N, Bruno P, Bluvstein J, Hedlund J, Kamens R, Maclean J, Nangia S, Singhal NS, Wilson CA, Patel A, Cilio MR
Lancet Neurol 2016 Mar;15(3):270-8. Epub 2015 Dec 24 doi: 10.1016/S1474-4422(15)00379-8. PMID: 26724101

Diagnosis

Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results.
Laux LC, Bebin EM, Checketts D, Chez M, Flamini R, Marsh ED, Miller I, Nichol K, Park Y, Segal E, Seltzer L, Szaflarski JP, Thiele EA, Weinstock A; CBD EAP study group
Epilepsy Res 2019 Aug;154:13-20. Epub 2019 Mar 25 doi: 10.1016/j.eplepsyres.2019.03.015. PMID: 31022635
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM
Neurology 2016 Jul 5;87(1):77-85. Epub 2016 Jun 8 doi: 10.1212/WNL.0000000000002807. PMID: 27281533Free PMC Article
Primary progressive myoclonus of aging.
Alvarez M, Caviness JN
Mov Disord 2008 Sep 15;23(12):1658-64. doi: 10.1002/mds.22085. PMID: 18709679
The absence epilepsies.
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

Therapy

Clinical efficacy and safety of cannabidiol for pediatric refractory epilepsy indications: A systematic review and meta-analysis.
Talwar A, Estes E, Aparasu R, Reddy DS
Exp Neurol 2023 Jan;359:114238. Epub 2022 Oct 4 doi: 10.1016/j.expneurol.2022.114238. PMID: 36206805
Cannabis effects on brain structure, function, and cognition: considerations for medical uses of cannabis and its derivatives.
Burggren AC, Shirazi A, Ginder N, London ED
Am J Drug Alcohol Abuse 2019;45(6):563-579. Epub 2019 Jul 31 doi: 10.1080/00952990.2019.1634086. PMID: 31365275Free PMC Article
Efficacy and Safety of Cannabidiol in Epilepsy: A Systematic Review and Meta-Analysis.
Lattanzi S, Brigo F, Trinka E, Zaccara G, Cagnetti C, Del Giovane C, Silvestrini M
Drugs 2018 Nov;78(17):1791-1804. doi: 10.1007/s40265-018-0992-5. PMID: 30390221
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J
Neurology 2018 Jul 10;91(2):82-90. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005756. PMID: 29898974
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.
Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, Miller I, Flamini R, Wilfong A, Filloux F, Wong M, Tilton N, Bruno P, Bluvstein J, Hedlund J, Kamens R, Maclean J, Nangia S, Singhal NS, Wilson CA, Patel A, Cilio MR
Lancet Neurol 2016 Mar;15(3):270-8. Epub 2015 Dec 24 doi: 10.1016/S1474-4422(15)00379-8. PMID: 26724101

Prognosis

Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1.
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
Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Myoclonic status epilepticus induced by cefepime overdose requiring haemodialysis.
Garin A, Bavozet F
BMJ Case Rep 2019 Jun 6;12(6) doi: 10.1136/bcr-2018-228108. PMID: 31175111Free PMC Article
Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity.
Uchida CGP, de Carvalho KC, Guaranha MSB, Guilhoto LMFF, de Araújo Filho GM, Yacubian EMT
Seizure 2018 Nov;62:17-25. Epub 2018 Sep 17 doi: 10.1016/j.seizure.2018.09.006. PMID: 30248569
The absence epilepsies.
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

Clinical prediction guides

Perampanel for the treatment of people with idiopathic generalized epilepsy in clinical practice.
Trinka E, Alsaadi T, Goji H, Maehara T, Takahashi S, Jacobs J, Renna R, Gil-López FJ, McMurray R, Sáinz-Fuertes R, Villanueva V
Epilepsia 2023 Aug;64(8):2094-2107. Epub 2023 Jun 4 doi: 10.1111/epi.17631. PMID: 37114853
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group
Lancet 2019 Dec 21;394(10216):2243-2254. Epub 2019 Dec 17 doi: 10.1016/S0140-6736(19)32500-0. PMID: 31862249
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM
Neurology 2016 Jul 5;87(1):77-85. Epub 2016 Jun 8 doi: 10.1212/WNL.0000000000002807. PMID: 27281533Free PMC Article
The absence epilepsies.
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432
Electroencephalographic findings of hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
Inazuki G, Baba K, Naito H
Jpn J Psychiatry Neurol 1989 Jun;43(2):213-20. doi: 10.1111/j.1440-1819.1989.tb02572.x. PMID: 2529387

Recent systematic reviews

Efficacy and safety of six new antiseizure medications for adjunctive treatment of focal epilepsy and epileptic syndrome: A systematic review and network meta-analysis.
Tong J, Ji T, Liu T, Liu J, Chen Y, Li Z, Lu N, Li Q
Epilepsy Behav 2024 Mar;152:109653. Epub 2024 Jan 25 doi: 10.1016/j.yebeh.2024.109653. PMID: 38277848
Clinical efficacy and safety of cannabidiol for pediatric refractory epilepsy indications: A systematic review and meta-analysis.
Talwar A, Estes E, Aparasu R, Reddy DS
Exp Neurol 2023 Jan;359:114238. Epub 2022 Oct 4 doi: 10.1016/j.expneurol.2022.114238. PMID: 36206805
Dravet syndrome: Effects on informal caregivers' mental health and quality of life - A systematic review.
Gonçalves C, Martins S, Fernandes L
Epilepsy Behav 2021 Sep;122:108206. Epub 2021 Jul 16 doi: 10.1016/j.yebeh.2021.108206. PMID: 34280725
Efficacy and Safety of Cannabidiol in Epilepsy: A Systematic Review and Meta-Analysis.
Lattanzi S, Brigo F, Trinka E, Zaccara G, Cagnetti C, Del Giovane C, Silvestrini M
Drugs 2018 Nov;78(17):1791-1804. doi: 10.1007/s40265-018-0992-5. PMID: 30390221
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data.
Kassaï B, Chiron C, Augier S, Cucherat M, Rey E, Gueyffier F, Guerrini R, Vincent J, Dulac O, Pons G
Epilepsia 2008 Feb;49(2):343-8. Epub 2007 Nov 19 doi: 10.1111/j.1528-1167.2007.01423.x. PMID: 18028411

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