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Startle epilepsy

MedGen UID:
1633187
Concept ID:
C4706527
Disease or Syndrome
Synonym: startle epilepsy
SNOMED CT: Startle epilepsy (763632004)
 
Monarch Initiative: MONDO:0015648
Orphanet: ORPHA166427

Definition

A rare neurologic disease with characteristics of frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemiplegia, spastic diplegia or spastic tetraplegia and intellectual disability. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVStartle epilepsy

Professional guidelines

PubMed

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D
J Med Genet 2018 Feb;55(2):104-113. Epub 2017 Nov 2 doi: 10.1136/jmedgenet-2017-104946. PMID: 29097605Free PMC Article
Masri A, Chung SK, Rees MI
Brain Dev 2017 Apr;39(4):306-311. Epub 2016 Nov 11 doi: 10.1016/j.braindev.2016.10.010. PMID: 27843043
Pearl PL
J Inherit Metab Dis 2009 Apr;32(2):204-13. Epub 2009 Feb 24 doi: 10.1007/s10545-009-1045-8. PMID: 19234868

Recent clinical studies

Etiology

Caraballo R, Bartuluchi M, Cersósimo R, Soraru A, Pomata H
Childs Nerv Syst 2011 Dec;27(12):2131-6. Epub 2011 Sep 27 doi: 10.1007/s00381-011-1596-5. PMID: 21947090
Bhidayasiri R, Truong DD
Handb Clin Neurol 2011;100:421-30. doi: 10.1016/B978-0-444-52014-2.00032-X. PMID: 21496599
Yang Z, Liu X, Qin J, Zhang Y, Bao X, Wang S, Chang X
Clin Neurophysiol 2010 May;121(5):658-64. Epub 2010 Jan 13 doi: 10.1016/j.clinph.2009.12.020. PMID: 20071222
d'Orsi G, Demaio V, Operto F, Auricchio G, Minervini MG, Coppola G
Neuropediatrics 2009 Apr;40(2):97-100. Epub 2009 Oct 6 doi: 10.1055/s-0029-1237722. PMID: 19809941
Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL, McWilliam RC, Zuberi SM
Brain Dev 2005 Mar;27(2):108-13. doi: 10.1016/j.braindev.2003.11.010. PMID: 15668049

Diagnosis

Ohta K, Okanishi T, Kanai S, Okazaki T, Fujimoto A, Maegaki Y
Epileptic Disord 2022 Jun 1;24(3):606-608. doi: 10.1684/epd.2022.1415. PMID: 35770753
Bhidayasiri R, Truong DD
Handb Clin Neurol 2011;100:421-30. doi: 10.1016/B978-0-444-52014-2.00032-X. PMID: 21496599
Yang Z, Liu X, Qin J, Zhang Y, Bao X, Wang S, Chang X
Clin Neurophysiol 2010 May;121(5):658-64. Epub 2010 Jan 13 doi: 10.1016/j.clinph.2009.12.020. PMID: 20071222
García-Morales I, Maestú F, Pérez-Jiménez MA, Elices E, Ortiz T, Alvarez-Linera J, Gil-Nagel A
Epilepsy Behav 2009 Sep;16(1):166-71. Epub 2009 Jul 26 doi: 10.1016/j.yebeh.2009.06.020. PMID: 19635686
Meinck HM
Neurophysiol Clin 2006 Sep-Dec;36(5-6):357-64. Epub 2007 Jan 26 doi: 10.1016/j.neucli.2006.12.007. PMID: 17336782

Therapy

Moseley BD, Shin C
BMJ Case Rep 2011 Oct 16;2011 doi: 10.1136/bcr.09.2011.4801. PMID: 22675038Free PMC Article
Yang Z, Liu X, Qin J, Zhang Y, Bao X, Wang S, Chang X
Clin Neurophysiol 2010 May;121(5):658-64. Epub 2010 Jan 13 doi: 10.1016/j.clinph.2009.12.020. PMID: 20071222
Labate A, Barone R, Gambardella A, Civitelli D, Fiumara A, Annesi G, Zappia M, Pavone L, Quattrone A
Brain Dev 2004 Mar;26(2):130-3. doi: 10.1016/S0387-7604(03)00069-X. PMID: 15036433
Aguglia U, Tinuper P, Gastaut H
Epilepsia 1984 Dec;25(6):712-20. doi: 10.1111/j.1528-1157.1984.tb03482.x. PMID: 6510379
Sáenz-Lope E, Herranz FJ, Masdeu JC
Ann Neurol 1984 Jul;16(1):78-81. doi: 10.1002/ana.410160115. PMID: 6465864

Prognosis

Job AS, De Palma L, Principe A, Hoffmann D, Minotti L, Chabardès S, David O, Kahane P
Epilepsia 2014 Aug;55(8):e85-8. Epub 2014 Jun 5 doi: 10.1111/epi.12659. PMID: 24902865
Yang Z, Liu X, Qin J, Zhang Y, Bao X, Wang S, Chang X
Clin Neurophysiol 2010 May;121(5):658-64. Epub 2010 Jan 13 doi: 10.1016/j.clinph.2009.12.020. PMID: 20071222
d'Orsi G, Demaio V, Operto F, Auricchio G, Minervini MG, Coppola G
Neuropediatrics 2009 Apr;40(2):97-100. Epub 2009 Oct 6 doi: 10.1055/s-0029-1237722. PMID: 19809941
Gürses C, Alpay K, Ciftçi FD, Bebek N, Baykan B, Gökyiğit A
Seizure 2008 Oct;17(7):625-30. doi: 10.1016/j.seizure.2008.04.003. PMID: 18486495
Zafeiriou D, Vargiami E, Kontopoulos E
Epileptic Disord 2003 Jun;5(2):121-2. PMID: 12875957

Clinical prediction guides

Moseley BD, Shin C
BMJ Case Rep 2011 Oct 16;2011 doi: 10.1136/bcr.09.2011.4801. PMID: 22675038Free PMC Article
Gürses C, Alpay K, Ciftçi FD, Bebek N, Baykan B, Gökyiğit A
Seizure 2008 Oct;17(7):625-30. doi: 10.1016/j.seizure.2008.04.003. PMID: 18486495
Tibussek D, Wohlrab G, Boltshauser E, Schmitt B
Epilepsia 2006 Jun;47(6):1050-8. doi: 10.1111/j.1528-1167.2006.00551.x. PMID: 16822252
Lin YY, Su MS, Yiu CH, Kwan SY, Tu YF, Guo WY, Wong TT, Chang KP
Zhonghua Yi Xue Za Zhi (Taipei) 1995 Oct;56(4):270-3. PMID: 8548670

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