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Giant somatosensory evoked potentials

MedGen UID:
813291
Concept ID:
C3806961
Finding
Synonym: Giant somatosensory evoked potentials (SEPs)
 
HPO: HP:0001312

Definition

An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. [from HPO]

Term Hierarchy

Conditions with this feature

Epilepsy, familial adult myoclonic, 1
MedGen UID:
371424
Concept ID:
C1832841
Disease or Syndrome
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; FAME5 (615400), caused by mutation in the CNTN2 gene (190197) on chromosome 1q32; 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. Progressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, 254800).
Epilepsy, familial adult myoclonic, 2
MedGen UID:
375031
Concept ID:
C1842852
Disease or Syndrome
Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Epilepsy, familial adult myoclonic, 3
MedGen UID:
462210
Concept ID:
C3150860
Disease or Syndrome
Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by Florian et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Epilepsy, progressive myoclonic, 11
MedGen UID:
1716712
Concept ID:
C5394362
Disease or Syndrome
Progressive myoclonic epilepsy-11 (EPM11) is a neurodegenerative disorder characterized by onset of developmental regression and various types of seizures around 2 years of age after relatively normal early development. The seizures are usually refractory to treatment and are associated with multiple abnormalities on EEG. During the first and second decades, affected individuals develop additional neurologic signs and symptoms, including pyramidal, extrapyramidal, and cerebellar signs such as spasticity, loss of independent ambulation, myoclonus, tremor, and ataxia. Cognitive impairment is severe, and patients can speak only a few words or are non-verbal (summary by Hamanaka et al., 2020). For discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).

Professional guidelines

PubMed

Kobayashi K, Hitomi T, Matsumoto R, Watanabe M, Takahashi R, Ikeda A
Seizure 2018 Oct;61:14-22. Epub 2018 Jul 19 doi: 10.1016/j.seizure.2018.07.014. PMID: 30053653
Xu L, Deng X, Wang S, Cao Y, Zhao Y, Zhang D, Zhang Y, Wang R, Qi W, Zhao J
World Neurosurg 2017 Jun;102:293-300. Epub 2017 Mar 22 doi: 10.1016/j.wneu.2017.03.055. PMID: 28342923
Ng K, Jones S
J Neurol 2007 Jan;254(1):46-52. Epub 2007 Feb 4 doi: 10.1007/s00415-006-0237-5. PMID: 17277914

Recent clinical studies

Etiology

Tojima M, Hitomi T, Matsuhashi M, Neshige S, Usami K, Oi K, Kobayashi K, Takeyama H, Shimotake A, Takahashi R, Ikeda A
Mov Disord 2021 Oct;36(10):2335-2345. Epub 2021 May 28 doi: 10.1002/mds.28666. PMID: 34050549
Storti SF, Del Felice A, Canafoglia L, Formaggio E, Brigo F, Alessandrini F, Bongiovanni LG, Menegaz G, Manganotti P
Sci Rep 2017 Mar 15;7:44664. doi: 10.1038/srep44664. PMID: 28294187Free PMC Article
Ferlazzo E, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F, Minassian BA, Turnbull J, Serratosa JM, Guerrero-López R, Franceschetti S, Aguglia U
Epilepsia 2014 Dec;55(12):e129-33. Epub 2014 Sep 30 doi: 10.1111/epi.12806. PMID: 25270369
Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780
Ferri R, Elia M, Musumeci SA, Cosentino FI, Roccasalva G, Spada RS, Toscano G
J Child Neurol 2001 Aug;16(8):541-7. doi: 10.1177/088307380101600801. PMID: 11510922

Diagnosis

Latorre A, Belvisi D, Rothwell JC, Bhatia KP, Rocchi L
Clin Neurophysiol 2023 Dec;156:125-139. Epub 2023 Oct 31 doi: 10.1016/j.clinph.2023.10.007. PMID: 37948946
Tojima M, Hitomi T, Matsuhashi M, Neshige S, Usami K, Oi K, Kobayashi K, Takeyama H, Shimotake A, Takahashi R, Ikeda A
Mov Disord 2021 Oct;36(10):2335-2345. Epub 2021 May 28 doi: 10.1002/mds.28666. PMID: 34050549
Storti SF, Del Felice A, Canafoglia L, Formaggio E, Brigo F, Alessandrini F, Bongiovanni LG, Menegaz G, Manganotti P
Sci Rep 2017 Mar 15;7:44664. doi: 10.1038/srep44664. PMID: 28294187Free PMC Article
Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780
Defebvre L
Neurophysiol Clin 2006 Sep-Dec;36(5-6):319-25. Epub 2006 Dec 13 doi: 10.1016/j.neucli.2006.11.003. PMID: 17336776

Therapy

Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780
Ferri R, Elia M, Musumeci SA, Cosentino FI, Roccasalva G, Spada RS, Toscano G
J Child Neurol 2001 Aug;16(8):541-7. doi: 10.1177/088307380101600801. PMID: 11510922
Guerrini R, De Lorey TM, Bonanni P, Moncla A, Dravet C, Suisse G, Livet MO, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa JM
Ann Neurol 1996 Jul;40(1):39-48. doi: 10.1002/ana.410400109. PMID: 8687190
Seyal M
J Clin Neurophysiol 1991 Jan;8(1):95-101. doi: 10.1097/00004691-199101000-00012. PMID: 1902237
Rothwell JC, Obeso JA, Marsden CD
J Neurol Neurosurg Psychiatry 1984 Jan;47(1):33-42. doi: 10.1136/jnnp.47.1.33. PMID: 6420519Free PMC Article

Prognosis

Tojima M, Hitomi T, Matsuhashi M, Neshige S, Usami K, Oi K, Kobayashi K, Takeyama H, Shimotake A, Takahashi R, Ikeda A
Mov Disord 2021 Oct;36(10):2335-2345. Epub 2021 May 28 doi: 10.1002/mds.28666. PMID: 34050549
Togashi N, Fujita A, Shibuya M, Uneoka S, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Jin K, Matsumoto N, Haginoya K
Brain Dev 2020 Oct;42(9):696-699. Epub 2020 Jul 9 doi: 10.1016/j.braindev.2020.06.011. PMID: 32654954
Houlden DA, Boulos MI, Murray BJ, Norton L, Young GB
Can J Neurol Sci 2015 Sep;42(5):317-23. doi: 10.1017/cjn.2015.237. PMID: 26348901
Ferlazzo E, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F, Minassian BA, Turnbull J, Serratosa JM, Guerrero-López R, Franceschetti S, Aguglia U
Epilepsia 2014 Dec;55(12):e129-33. Epub 2014 Sep 30 doi: 10.1111/epi.12806. PMID: 25270369
Labauge P, Amer LO, Simonetta-Moreau M, Attané F, Tannier C, Clanet M, Castelnovo G, An-Gourfinkel I, Agid Y, Brice A, Ducros A, LeGuern E
Neurology 2002 Mar 26;58(6):941-4. doi: 10.1212/wnl.58.6.941. PMID: 11914412

Clinical prediction guides

Latorre A, Belvisi D, Rothwell JC, Bhatia KP, Rocchi L
Clin Neurophysiol 2023 Dec;156:125-139. Epub 2023 Oct 31 doi: 10.1016/j.clinph.2023.10.007. PMID: 37948946
Tojima M, Hitomi T, Matsuhashi M, Neshige S, Usami K, Oi K, Kobayashi K, Takeyama H, Shimotake A, Takahashi R, Ikeda A
Mov Disord 2021 Oct;36(10):2335-2345. Epub 2021 May 28 doi: 10.1002/mds.28666. PMID: 34050549
Houlden DA, Boulos MI, Murray BJ, Norton L, Young GB
Can J Neurol Sci 2015 Sep;42(5):317-23. doi: 10.1017/cjn.2015.237. PMID: 26348901
Defebvre L
Neurophysiol Clin 2006 Sep-Dec;36(5-6):319-25. Epub 2006 Dec 13 doi: 10.1016/j.neucli.2006.11.003. PMID: 17336776
Shibasaki H, Yamashita Y, Neshige R, Tobimatsu S, Fukui R
Brain 1985 Mar;108 ( Pt 1):225-40. doi: 10.1093/brain/108.1.225. PMID: 3919884

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