Research & Literature

Cerebellar Atrophy in Cortical Myoclonic Tremor and Not in Hereditary Essential Tremor-a Voxel-Based Morphometry Study.

Buijink AW, Broersma M, van der Stouwe AM, et al.

Cerebellum (London, England) 2016; (15(6)):696-704 doi:10.1007/s12311-015-0734-0.

Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy.

Hitomi T, Kobayashi K, Sakurai T, et al.

Epileptic disorders : international epilepsy journal with videotape 2016; (18(1)):67-72 doi:10.1684/epd.2016.0807.

Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy.

Cen Z, Huang C, Yin H, et al.

Movement disorders : official journal of the Movement Disorder Society 2016; (31(11)):1704-1710 doi:10.1002/mds.26756.

Autosomal dominant cortical tremor, myoclonus and epilepsy.

Striano P, Zara F

Epileptic disorders : international epilepsy journal with videotape 2016; (18(S2)):139-144 doi:10.1684/epd.2016.0860.

Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up.

van Coller R, van Rootselaar AF, Schutte C, van der Meyden CH

Parkinsonism & related disorders 2017; (38()):35-40 doi:10.1016/j.parkreldis.2017.02.016.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Ishiura H, Doi K, Mitsui J, et al.

Nature genetics 2018; (50(4)):581-590 doi:10.1038/s41588-018-0067-2.

MHRA bans valproate prescribing for women not in pregnancy prevention programme.

Iacobucci G

BMJ (Clinical research ed.) 2018; (361()):k1823 doi:10.1136/bmj.k1823.

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.

Cen Z, Jiang Z, Chen Y, et al.

Brain : a journal of neurology 2018; (141(8)):2280-2288 doi:10.1093/brain/awy160.

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.

Zeng S, Zhang MY, Wang XJ, et al.

Journal of medical genetics 2019; (56(4)):265-270 doi:10.1136/jmedgenet-2018-105484.

[Low-dose perampanel improved cortical myoclonus and basophobia in a patient with Unverricht-Lundborg disease: a case report].

Oi Y, Kobayashi K, Hitomi T, et al.

Rinsho shinkeigaku = Clinical neurology 2018; (58(10)):622-625 doi:10.5692/clinicalneurol.cn-001179.

TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy.

Lei XX, Liu Q, Lu Q, et al.

European journal of neurology 2019; (26(3)):513-518 doi:10.1111/ene.13848.

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases.

Mizuguchi T, Toyota T, Adachi H, et al.

Journal of human genetics 2019; (64(3)):191-197 doi:10.1038/s10038-018-0551-7.

Trigeminal neuralgia secondary to multiple sclerosis: from the clinical picture to the treatment options.

Di Stefano G, Maarbjerg S, Truini A

The journal of headache and pain 2019; (20(1)):20 doi:10.1186/s10194-019-0969-0.

Familial adult myoclonic epilepsy: A new expansion repeats disorder.

Lagorio I, Zara F, Striano S, Striano P

Seizure 2019; (67()):73-77 doi:10.1016/j.seizure.2019.03.009.

Time to take stock of Indian regulatory guidelines regarding drug use in pregnancy and lactation.

Arora A, Patil A

Indian journal of pharmacology 2019; (51(2)):126-127 doi:10.4103/ijp.IJP_647_18.

Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.

Cen Z, Chen Y, Yang D, et al.

Movement disorders : official journal of the Movement Disorder Society 2019; (34(10)):1571-1576 doi:10.1002/mds.27832.

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.

Yeetong P, Pongpanich M, Srichomthong C, et al.

Brain : a journal of neurology 2019; (142(11)):3360-3366 doi:10.1093/brain/awz267.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Corbett MA, Kroes T, Veneziano L, et al.

Nature communications 2019; (10(1)):4920 doi:10.1038/s41467-019-12671-y.

Familial cortical myoclonic tremor with epilepsy: TTTCA/TTTTA repeat expansions and expanding phenotype in two Chinese families.

Zhang Y, Xiong W, Lu L, Zhou D

Brain research 2020; (1737()):146796 doi:10.1016/j.brainres.2020.146796.

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.

Bennett MF, Oliver KL, Regan BM, et al.

European journal of human genetics : EJHG 2020; (28(7)):973-978 doi:10.1038/s41431-020-0606-z.

Characteristics of visual sensitivity in familial cortical myoclonic tremor and epilepsy.

Wang X, Wang B, Wang J, et al.

Epileptic disorders : international epilepsy journal with videotape 2021; (23(2)):366-375 doi:10.1684/epd.2021.1278.

A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High-Frequency Activities in Giant Somatosensory Evoked Potentials.

Tojima M, Hitomi T, Matsuhashi M, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(10)):2335-2345 doi:10.1002/mds.28666.

Psychiatric disorders of the combination of levetiracetam either with lacosamide or perampanel: a retrospective cohort study.

Matsunuma S, Sunaga S, Hoshiai A, et al.

International journal of clinical pharmacy 2021; (43(6)):1516-1522 doi:10.1007/s11096-021-01274-7.

GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.

Yang Y, Zeng Q, Cheng M, et al.

Journal of neurology 2022; (269(5)):2649-2665 doi:10.1007/s00415-021-10834-w.

Evaluation of persistence and healthcare utilization in patients treated with anti-seizure medications as add-on therapy: A nationwide cohort study in South Korea.

Lee JW, Kim JA, Kim MY, Lee SK

Epilepsy & behavior : E&B 2022; (126()):108459 doi:10.1016/j.yebeh.2021.108459.

Are female bipolar patients of reproductive age aware of the teratogenic risk of sodium valproate? A qualitative study.

Sibanyoni AU, Joubert M, Naidu K

The South African journal of psychiatry : SAJP : the journal of the Society of Psychiatrists of South Africa 2022; (28()):1719 doi:10.4102/sajpsychiatry.v28i0.1719.

Association of Aggression and Antiepileptic Drugs: Analysis Using the Japanese Adverse Drug Event Report (JADER) Database.

Kawada K, Ishida T, Jobu K, et al.

Biological & pharmaceutical bulletin 2022; (45(6)):720-723 doi:10.1248/bpb.b21-00954.

Aberrant visual-related networks in familial cortical myoclonic tremor with epilepsy.

Wang H, Wang B, Cen Z, et al.

Parkinsonism & related disorders 2022; (101()):105-110 doi:10.1016/j.parkreldis.2022.07.001.

Perampanel as First Adjunctive Treatment in Patients with Focal-Onset Seizures in the FAME Study: Post hoc Analyses of Dose-Related Efficacy, Safety and Clinical Factors Associated with Response.

Kim DW, Kim JH, Lee SK, et al.

Journal of epilepsy research 2022; (12(1)):6-12 doi:10.14581/jer.22002.

Efficacy of levetiracetam, lamotrigine and sodium valproate on seizure attacks and EEG disorders in patients with juvenile myoclonic epilepsy: A double blind randomized clinical trial.

Daneshyar S, Ghiasian M, Moradi S, Khanlarzadeh E

Caspian journal of internal medicine 2022; (13(3)):617-622 doi:10.22088/cjim.13.3.617.

Amplitude of Somatosensory Evoked Potentials (SEPs) Recorded in Short-Latency SEP Condition Is 80% of That in Giant SEP Condition.

Demura A, Demura Y, Sato K, Kinoshita M

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2024; (41(3)):285-290 doi:10.1097/WNP.0000000000000966.

Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.

Depienne C, van den Maagdenberg AMJM, Kühnel T, et al.

Epilepsia 2023; (64 Suppl 1()):S31-S38 doi:10.1111/epi.17504.

A solved puzzle: Familial adult myoclonus epilepsy is a new expansion repeats disorder.

Coppola A, Bilo L, Striano P

Epilepsia 2023; (64 Suppl 1()):S1-S2 doi:10.1111/epi.17545.

Familial adult myoclonus epilepsy: Neurophysiological investigations.

Dubbioso R, Suppa A, Tijssen MAJ, Ikeda A

Epilepsia 2023; (64 Suppl 1()):S39-S46 doi:10.1111/epi.17553.

Current treatment options for familial adult myoclonus epilepsy.

Coppola A, Dubbioso R, Cuccurullo C, et al.

Epilepsia 2023; (64 Suppl 1()):S58-S63 doi:10.1111/epi.17590.

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Corbett MA, Depienne C, Veneziano L, et al.

Epilepsia 2023; (64 Suppl 1()):S14-S21 doi:10.1111/epi.17610.

Familial adult myoclonus epilepsy: Neuroimaging and neuropathological findings.

van Rootselaar AF, Cocozza S, Aronica E, Striano P

Epilepsia 2023; (64 Suppl 1()):S47-S51 doi:10.1111/epi.17628.

Familial Adult Myoclonic Epilepsy: Clinical and Genetic Approach to an Under-recognized Disease.

Uzun GA, Baykan B

Noro psikiyatri arsivi 2023; (60(2)):174-177 doi:10.29399/npa.28252.

Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.

Jagota P, Ugawa Y, Aldaajani Z, et al.

Journal of movement disorders 2023; (16(3)):231-247 doi:10.14802/jmd.23065.

Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar-Thalamic-Cortical Loop.

Cuccurullo C, Striano P, Coppola A

Cells 2023; (12(12)) doi:10.3390/cells12121617.

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

Yeetong P, Dembélé ME, Pongpanich M, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(1)):164-172 doi:10.1002/mds.29654.

Familial adult myoclonus epilepsy: a pragmatic approach.

Cherian A, Divya KP, Krishnan ARS

Acta neurologica Belgica 2024; (124(2)):389-394 doi:10.1007/s13760-023-02432-6.

Risk of Autism after Prenatal Topiramate, Valproate, or Lamotrigine Exposure.

Hernández-Díaz S, Straub L, Bateman BT, et al.

The New England journal of medicine 2024; (390(12)):1069-1079 doi:10.1056/NEJMoa2309359.

Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up.

Peters L, Depienne C, Klebe S

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2021; (33(4)):311-318 doi:10.1515/medgen-2021-2100.

Redefined giant somatosensory evoked potentials: Evoked epileptic complexes of excitatory and inhibitory components.

Ishibashi H, Kobayashi K, Yamanaka H, et al.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2024; (164()):119-129 doi:10.1016/j.clinph.2024.05.011.

Clinical efficacy of low-dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2.

Coppola A, Cuccurullo C, Senerchia G, et al.

Epilepsia open 2025; (10(1)):321-328 doi:10.1002/epi4.13100.

(TTTCA)exp Drives the Genotype-Phenotype Correlation and Genetic Anticipation in FCMTE1.

Chen X, Wang B, Xia H, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(2)):315-323 doi:10.1002/mds.30057.

[Molecular genetics of benign adult familial myoclonus epilepsy].

Ishiura H

Rinsho shinkeigaku = Clinical neurology 2025; (65(7)):495-502 doi:10.5692/clinicalneurol.cn-002111.

Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice.

Lu Y, Ge Y, Wang R, et al.

Epilepsia 2025; (66(11)):4107-4121 doi:10.1111/epi.18568.

Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.

Urabe H, Nakajima T, Mitsuhashi S, et al.

BMC medical genomics 2025; (18(1)):180 doi:10.1186/s12920-025-02247-9.

Pregnancy, baby, and childhood outcomes from using anti-seizure medication during pregnancy.

Moore E, Millar M, Merrick R, et al.

Communications medicine 2025; doi:10.1038/s43856-025-01285-9.

Capability, opportunity and motivation for shared decision-making about valproate as an antiseizure medication treatment for epilepsy in women with pregnancy potential: A qualitative study of patient perspectives.

Griffiths SL, James D, Williams D, et al.

British journal of health psychology 2026; (31(1)):e70045 doi:10.1111/bjhp.70045.