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Epileptic spasms

MedGen UID:
315948
Concept ID:
C1527366
Disease or Syndrome
Synonyms: Salaam convulsions; Salaam seizures; West syndrome
SNOMED CT: Krampfe salaam attacks (28055006); Blitz-Nick-salaam attacks (28055006); Salaam attack (28055006); Salaam attacks (28055006)
 
HPO: HP:0011097

Definition

A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpileptic spasms

Conditions with this feature

Aicardi syndrome
MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Aicardi syndrome was classically characterized by a triad of features: agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. However, it is now well recognized that several other important findings are typically present in girls with Aicardi syndrome. Neurologic examination can reveal microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Moderate to severe global developmental delay and intellectual disability are expected. Many girls with Aicardi syndrome develop seizures prior to age three months, and most before age one year. Ongoing medically refractory epilepsy with a variety of seizure types develops over time. Costovertebral defects are common and can lead to marked scoliosis in up to one third of affected individuals. Other features include characteristic facial features, gastrointestinal difficulties, small hands, vascular malformations and pigmentary lesions of the skin, increased incidence of tumors, lower growth rate after ages seven to nine years, and precocious or delayed puberty. Survival is highly variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.
Early infantile epileptic encephalopathy 4
MedGen UID:
436917
Concept ID:
C2677326
Disease or Syndrome
STXBP1 encephalopathy with epilepsy is characterized by early-onset encephalopathy with epilepsy (i.e., moderate to severe intellectual disability, refractory seizures, and ongoing epileptiform activity). The median age of onset of seizures is six weeks (range 1 day to 13 years). Seizure types can include infantile spasms; generalized tonic-clonic, clonic, or tonic seizures; and myoclonic, focal, atonic, and absence seizures. Epilepsy syndromes can include Ohtahara syndrome, West syndrome, Lennox-Gaustaut syndrome, and Dravet syndrome (not SCN1A-related), classic Rett syndrome (not MECP2-related), and atypical Rett syndrome (not CDKL5-related). The EEG is characterized by focal epileptic activity, burst suppression, hypsarrhythmia, or generalized spike-and-slow waves. Other findings can include abnormal tone, movement disorders (especially ataxia and dystonia), and behavior disorders (including autism spectrum disorder). Feeding difficulties are common.
Early infantile epileptic encephalopathy 13
MedGen UID:
482821
Concept ID:
C3281191
Disease or Syndrome
SCN8A-related epilepsy with encephalopathy is characterized by developmental delay, seizure onset in the first 18 months of life (mean 4 months), and intractable epilepsy characterized by multiple seizure types (generalized tonic-clonic seizures, infantile spasms, and absence and focal seizures). Epilepsy syndromes can include Lennox-Gastaut syndrome, West syndrome, and epileptic encephalopathies (e.g., Dravet syndrome). Hypotonia and movement disorders including dystonia, ataxia, and choreoathetosis are common. Psychomotor development varies from normal prior to seizure onset (with subsequent slowing or regression after seizure onset) to abnormal from birth. Intellectual disability, present in all, ranges from mild to severe (in ~50% of affected individuals). Autistic features are noted in some. Sudden unexpected death in epilepsy (SUDEP) of unknown cause has been reported in approximately 10% of published cases. To date SCN8A-related epilepsy with encephalopathy has been reported in the literature in about 50 individuals.
Early infantile epileptic encephalopathy 15
MedGen UID:
767230
Concept ID:
C3554316
Disease or Syndrome

Recent clinical studies

Etiology

Pereira AG, Bahi-Buisson N, Barnerias C, Boddaert N, Nabbout R, de Lonlay P, Kaminska A, Eisermann M
Epileptic Disord 2017 Mar 1;19(1):15-23. doi: 10.1684/epd.2017.0901. PMID: 28300031
Xue J, Qian P, Li H, Yang H, Liu X, Zhang Y, Yang Z
Clin Neurophysiol 2017 Jan;128(1):220-226. Epub 2016 Nov 20 doi: 10.1016/j.clinph.2016.11.008. PMID: 27940146
Marchi LR, Seraphim EA, Corso JT, Naves PV, Carvalho KC, Ramirez MD, Ferrari-Marinho T, Guaranha MS, Yacubian EM
Epileptic Disord 2015 Jun;17(2):188-93. doi: 10.1684/epd.2015.0738. PMID: 25895540
Yamada K, Toribe Y, Kimizu T, Kimura S, Ikeda T, Mogami Y, Yanagihara K, Mano T, Suzuki Y
Seizure 2014 Oct;23(9):703-7. Epub 2014 Jun 2 doi: 10.1016/j.seizure.2014.05.010. PMID: 24939523
Kayyali HR, Gustafson M, Myers T, Thompson L, Williams M, Abdelmoity A
Pediatr Neurol 2014 Mar;50(3):224-7. Epub 2013 Dec 4 doi: 10.1016/j.pediatrneurol.2013.11.021. PMID: 24433856

Diagnosis

Xue J, Qian P, Li H, Yang H, Liu X, Zhang Y, Yang Z
Clin Neurophysiol 2017 Jan;128(1):220-226. Epub 2016 Nov 20 doi: 10.1016/j.clinph.2016.11.008. PMID: 27940146
Pittau F, Korff CM, Nordli DR Jr
Epileptic Disord 2016 Sep 1;18(3):289-96. doi: 10.1684/epd.2016.0854. PMID: 27506632
Igarashi A, Okumura A, Shimojima K, Abe S, Ikeno M, Shimizu T, Yamamoto T
Brain Dev 2016 Jun;38(6):597-600. Epub 2016 Feb 8 doi: 10.1016/j.braindev.2015.12.011. PMID: 26867511
Xixis KI, Mikati MA
Epileptic Disord 2015 Dec;17(4):467-72. doi: 10.1684/epd.2015.0784. PMID: 26609730
Yamada K, Toribe Y, Kimizu T, Kimura S, Ikeda T, Mogami Y, Yanagihara K, Mano T, Suzuki Y
Seizure 2014 Oct;23(9):703-7. Epub 2014 Jun 2 doi: 10.1016/j.seizure.2014.05.010. PMID: 24939523

Therapy

Igarashi A, Okumura A, Shimojima K, Abe S, Ikeno M, Shimizu T, Yamamoto T
Brain Dev 2016 Jun;38(6):597-600. Epub 2016 Feb 8 doi: 10.1016/j.braindev.2015.12.011. PMID: 26867511
Marchi LR, Seraphim EA, Corso JT, Naves PV, Carvalho KC, Ramirez MD, Ferrari-Marinho T, Guaranha MS, Yacubian EM
Epileptic Disord 2015 Jun;17(2):188-93. doi: 10.1684/epd.2015.0738. PMID: 25895540
Yamada K, Toribe Y, Kimizu T, Kimura S, Ikeda T, Mogami Y, Yanagihara K, Mano T, Suzuki Y
Seizure 2014 Oct;23(9):703-7. Epub 2014 Jun 2 doi: 10.1016/j.seizure.2014.05.010. PMID: 24939523
Kayyali HR, Gustafson M, Myers T, Thompson L, Williams M, Abdelmoity A
Pediatr Neurol 2014 Mar;50(3):224-7. Epub 2013 Dec 4 doi: 10.1016/j.pediatrneurol.2013.11.021. PMID: 24433856
Ramgopal S, Shah A, Zarowski M, Vendrame M, Gregas M, Alexopoulos AV, Loddenkemper T, Kothare SV
Epilepsia 2012 Jul;53(7):1170-7. Epub 2012 May 11 doi: 10.1111/j.1528-1167.2012.03499.x. PMID: 22578060

Prognosis

Wilmshurst JM, Ibekwe RC, O'Callaghan FJK
Seizure 2017 Jan;44:81-86. Epub 2016 Dec 6 doi: 10.1016/j.seizure.2016.11.021. PMID: 27989601
Xue J, Qian P, Li H, Yang H, Liu X, Zhang Y, Yang Z
Clin Neurophysiol 2017 Jan;128(1):220-226. Epub 2016 Nov 20 doi: 10.1016/j.clinph.2016.11.008. PMID: 27940146
Pittau F, Korff CM, Nordli DR Jr
Epileptic Disord 2016 Sep 1;18(3):289-96. doi: 10.1684/epd.2016.0854. PMID: 27506632
Yamada K, Toribe Y, Kimizu T, Kimura S, Ikeda T, Mogami Y, Yanagihara K, Mano T, Suzuki Y
Seizure 2014 Oct;23(9):703-7. Epub 2014 Jun 2 doi: 10.1016/j.seizure.2014.05.010. PMID: 24939523
Ramgopal S, Shah A, Zarowski M, Vendrame M, Gregas M, Alexopoulos AV, Loddenkemper T, Kothare SV
Epilepsia 2012 Jul;53(7):1170-7. Epub 2012 May 11 doi: 10.1111/j.1528-1167.2012.03499.x. PMID: 22578060

Clinical prediction guides

Pereira AG, Bahi-Buisson N, Barnerias C, Boddaert N, Nabbout R, de Lonlay P, Kaminska A, Eisermann M
Epileptic Disord 2017 Mar 1;19(1):15-23. doi: 10.1684/epd.2017.0901. PMID: 28300031
Xue J, Qian P, Li H, Yang H, Liu X, Zhang Y, Yang Z
Clin Neurophysiol 2017 Jan;128(1):220-226. Epub 2016 Nov 20 doi: 10.1016/j.clinph.2016.11.008. PMID: 27940146
Pittau F, Korff CM, Nordli DR Jr
Epileptic Disord 2016 Sep 1;18(3):289-96. doi: 10.1684/epd.2016.0854. PMID: 27506632
de la Vaissière S, Milh M, Scavarda D, Carron R, Lépine A, Trébuchon A, Gavaret M, Hewett R, Laguitton V, Daquin G, Villeneuve N, Bartolomei F
Epilepsy Res 2014 Nov;108(9):1572-80. Epub 2014 Aug 30 doi: 10.1016/j.eplepsyres.2014.08.008. PMID: 25212728
Yamada K, Toribe Y, Kimizu T, Kimura S, Ikeda T, Mogami Y, Yanagihara K, Mano T, Suzuki Y
Seizure 2014 Oct;23(9):703-7. Epub 2014 Jun 2 doi: 10.1016/j.seizure.2014.05.010. PMID: 24939523

Recent systematic reviews

Schwarz MD, Li M, Tsao J, Zhou R, Wu YW, Sankar R, Wu JY, Hussain SA
Epilepsy Behav 2016 Apr;57(Pt A):29-33. Epub 2016 Feb 23 doi: 10.1016/j.yebeh.2016.01.012. PMID: 26921595
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S
Neurology 2016 Mar 8;86(10):954-62. Epub 2016 Feb 10 doi: 10.1212/WNL.0000000000002457. PMID: 26865513
Mehta V, Ferrie CD, Cross JH, Vadlamani G
Cochrane Database Syst Rev 2015 Jun 18;(6):CD005222. doi: 10.1002/14651858.CD005222.pub3. PMID: 26086765
Gayatri NA, Ferrie CD, Cross H
Cochrane Database Syst Rev 2007 Jan 24;(1):CD005222. doi: 10.1002/14651858.CD005222.pub2. PMID: 17253546

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