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Epilepsy, familial adult myoclonic, 5(FAME5)

MedGen UID:
815704
Concept ID:
C3809374
Disease or Syndrome
Synonyms: CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 5; FAME5
 
Gene (location): CNTN2 (1q32.1)
 
Monarch Initiative: MONDO:0014167
OMIM®: 615400

Definition

Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by Stogmann et al., 2013). [from OMIM]

Clinical features

From HPO
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Focal impaired awareness seizure
MedGen UID:
543022
Concept ID:
C0270834
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
Focal sensory seizure with visual features
MedGen UID:
75815
Concept ID:
C0278188
Disease or Syndrome
A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.
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.
Hippocampal sclerosis
MedGen UID:
1778719
Concept ID:
C1504404
Disease or Syndrome
Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.
Interictal epileptiform activity
MedGen UID:
869073
Concept ID:
C4023491
Finding
Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.

Professional guidelines

PubMed

Lee J, Lee C, Park WY, Lee J
Ann Clin Lab Sci 2020 Sep;50(5):625-637. PMID: 33067208
Gil-Nagel A, Sanchez-Carpintero R, San Antonio V, Mistry A, Barker G, Shepherd J, Gil A
Rev Neurol 2019 Jan 16;68(2):75-81. PMID: 30638257
Cação G, Parra J, Mannan S, Sisodiya SM, Sander JW
Epilepsy Behav 2018 May;82:81-86. Epub 2018 Mar 27 doi: 10.1016/j.yebeh.2018.03.002. PMID: 29602081

Recent clinical studies

Etiology

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
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article
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
Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S; Cannabidiol in Dravet Syndrome Study Group
N Engl J Med 2017 May 25;376(21):2011-2020. doi: 10.1056/NEJMoa1611618. PMID: 28538134
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

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
Besag FMC, Vasey MJ
Epilepsy Behav 2019 Nov;100(Pt B):106210. Epub 2019 Jun 10 doi: 10.1016/j.yebeh.2019.03.015. PMID: 31196824
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
Lagorio I, Zara F, Striano S, Striano P
Seizure 2019 Apr;67:73-77. Epub 2019 Mar 19 doi: 10.1016/j.seizure.2019.03.009. PMID: 30928698
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Therapy

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
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article
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
Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S; Cannabidiol in Dravet Syndrome Study Group
N Engl J Med 2017 May 25;376(21):2011-2020. doi: 10.1056/NEJMoa1611618. PMID: 28538134
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

Kim KM, Hwang H, Sohn B, Park K, Han K, Ahn SS, Lee W, Chu MK, Heo K, Lee SK
Korean J Radiol 2022 Dec;23(12):1281-1289. doi: 10.3348/kjr.2022.0539. PMID: 36447416Free PMC Article
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
Lagorio I, Zara F, Striano S, Striano P
Seizure 2019 Apr;67:73-77. Epub 2019 Mar 19 doi: 10.1016/j.seizure.2019.03.009. PMID: 30928698
Walsh LE, McCandless D
Semin Pediatr Neurol 2001 Sep;8(3):165-76. doi: 10.1053/spen.2001.26450. PMID: 11575846
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Clinical prediction guides

Kim KM, Hwang H, Sohn B, Park K, Han K, Ahn SS, Lee W, Chu MK, Heo K, Lee SK
Korean J Radiol 2022 Dec;23(12):1281-1289. doi: 10.3348/kjr.2022.0539. PMID: 36447416Free PMC Article
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK
Sci Rep 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. PMID: 35190554Free PMC Article
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
Lee HJ, Park KM
Acta Neurol Scand 2019 May;139(5):469-475. Epub 2019 Feb 27 doi: 10.1111/ane.13079. PMID: 30758836
Rzezak P, Moschetta SP, Mendonça M, Paiva MLMN, Coan AC, Guerreiro C, Valente KDR
Epilepsy Behav 2018 Sep;86:124-130. Epub 2018 Jul 14 doi: 10.1016/j.yebeh.2018.05.029. PMID: 30017836

Recent systematic reviews

Lattanzi S, Trinka E, Russo E, Del Giovane C, Matricardi S, Meletti S, Striano P, Damavandi PT, Silvestrini M, Brigo F
Drugs 2023 Oct;83(15):1409-1424. Epub 2023 Sep 11 doi: 10.1007/s40265-023-01936-y. PMID: 37695433Free PMC Article
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
Wyers L, Van de Walle P, Hoornweg A, Tepes Bobescu I, Verheyen K, Ceulemans B, Schoonjans AS, Desloovere K, Hallemans A
Eur J Paediatr Neurol 2019 May;23(3):357-367. Epub 2019 Mar 22 doi: 10.1016/j.ejpn.2019.03.003. PMID: 30940509
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

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