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Focal-onset epileptic spasm

MedGen UID:
1712531
•Concept ID:
C5397849
•
Disease or Syndrome
Synonyms: FES - focal epileptic spasms; Focal onset epileptic spasm; Focal onset epileptic spasms; Focal onset spasms; Focal-onset epileptic spasms
SNOMED CT: Focal-onset epileptic spasms (1269359007); Focal onset spasms (1269359007); FES - focal epileptic spasms (1269359007); Focal onset epileptic spasms (1269359007)
 
HPO: HP:0032843

Definition

A type of epileptic spasm of focal onset. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal-onset epileptic spasm

Professional guidelines

PubMed

Sirolimus treatment for tuberous sclerosis complex prior to epilepsy: Evidence from a registry-based real-world study.
Shen YW, Wang YY, Zhang MN, Xu Y, Lu Q, He W, Chen HM, Liu LY, Pang LY, Wang QH, Dun S, Li YF, Gao J, Han F, Zou LP
Seizure 2022 Apr;97:23-31. Epub 2022 Mar 8 doi: 10.1016/j.seizure.2022.03.003. PMID: 35286974

Recent clinical studies

Etiology

Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I
Brain 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. PMID: 38015929Free PMC Article
Childhood-onset epilepsy in patients with dyskinetic cerebral palsy caused by basal ganglia and thalamic lesions.
Nishimoto S, Kitai Y, Hirai S, Hirotsune M, Okuyama N, Hirano S, Mogami Y, Arai H
Eur J Paediatr Neurol 2023 Nov;47:41-46. Epub 2023 Sep 7 doi: 10.1016/j.ejpn.2023.09.006. PMID: 37708783
Comparing late-onset epileptic spasm outcomes after corpus callosotomy and subsequent disconnection surgery between post-encephalitis/encephalopathy and non-encephalitis/encephalopathy.
Inoue T, Kuki I, Uda T, Kunihiro N, Umaba R, Koh S, Nukui M, Okazaki S, Otsubo H
Epilepsia Open 2023 Jun;8(2):346-359. Epub 2023 Feb 6 doi: 10.1002/epi4.12698. PMID: 36692212Free PMC Article
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I
Brain 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. PMID: 35190816Free PMC Article
A tale of two cohorts: Differing outcomes in infantile-onset focal epilepsy.
Triplet EM, Nickels K, Wong-Kisiel L, Fine A, Wirrell EC
Epilepsia 2022 Apr;63(4):950-960. Epub 2022 Feb 10 doi: 10.1111/epi.17181. PMID: 35146752Free PMC Article

Diagnosis

Discriminating and understanding brain states in children with epileptic spasms using deep learning and graph metrics analysis of brain connectivity.
Nogales A, García-Tejedor ÁJ, Chazarra P, Ugalde-Canitrot A
Comput Methods Programs Biomed 2023 Apr;232:107427. Epub 2023 Feb 24 doi: 10.1016/j.cmpb.2023.107427. PMID: 36870168
The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study.
Kamaşak T, Serdaroğlu E, Yılmaz Ö, Kılıç BA, Polat BG, Erdoğan I, Yücel Şen AD, Özen N, Durgut BD, Yıldız N, Özkan Kart P, Dilber B, Arslan EA, Şahin S, Topçu Y, Gencpinar P, Serin HM, Hız SA, Çarman KB, Dündar NO, Okuyaz Ç, Aydın K, Serdaroğlu A, Tekgül H, Cansu A
Epilepsy Res 2022 Aug;184:106963. Epub 2022 Jun 6 doi: 10.1016/j.eplepsyres.2022.106963. PMID: 35749975
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Cabasson S, Van-Gils J, Villéga F, Abi-Warde MT, Barcia G, Lazaro L, Cancés C, Chelly J, Karsenty C, Rivera S, de Saint-Martin A, Trimouille A, Villard L, Pédespan JM
Eur J Paediatr Neurol 2020 Sep;28:214-220. Epub 2020 Jun 28 doi: 10.1016/j.ejpn.2020.06.002. PMID: 32694024
Neonatal neuroimaging and neurophysiology predict infantile onset epilepsy after perinatal hypoxic ischemic encephalopathy.
Nevalainen P, Metsäranta M, Toiviainen-Salo S, Marchi V, Mikkonen K, Vanhatalo S, Lauronen L
Seizure 2020 Aug;80:249-256. Epub 2020 Jul 4 doi: 10.1016/j.seizure.2020.07.002. PMID: 32663784
Electroencephalography in neonatal epilepsies.
Okumura A
Pediatr Int 2020 Sep;62(9):1019-1028. doi: 10.1111/ped.14227. PMID: 32153072

Therapy

Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I
Brain 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. PMID: 38015929Free PMC Article
The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study.
Kamaşak T, Serdaroğlu E, Yılmaz Ö, Kılıç BA, Polat BG, Erdoğan I, Yücel Şen AD, Özen N, Durgut BD, Yıldız N, Özkan Kart P, Dilber B, Arslan EA, Şahin S, Topçu Y, Gencpinar P, Serin HM, Hız SA, Çarman KB, Dündar NO, Okuyaz Ç, Aydın K, Serdaroğlu A, Tekgül H, Cansu A
Epilepsy Res 2022 Aug;184:106963. Epub 2022 Jun 6 doi: 10.1016/j.eplepsyres.2022.106963. PMID: 35749975
Sirolimus treatment for tuberous sclerosis complex prior to epilepsy: Evidence from a registry-based real-world study.
Shen YW, Wang YY, Zhang MN, Xu Y, Lu Q, He W, Chen HM, Liu LY, Pang LY, Wang QH, Dun S, Li YF, Gao J, Han F, Zou LP
Seizure 2022 Apr;97:23-31. Epub 2022 Mar 8 doi: 10.1016/j.seizure.2022.03.003. PMID: 35286974
A tale of two cohorts: Differing outcomes in infantile-onset focal epilepsy.
Triplet EM, Nickels K, Wong-Kisiel L, Fine A, Wirrell EC
Epilepsia 2022 Apr;63(4):950-960. Epub 2022 Feb 10 doi: 10.1111/epi.17181. PMID: 35146752Free PMC Article
Epileptic spasms in older pediatric patients: MEG and ictal high-frequency oscillations suggest focal-onset seizures in a subset of epileptic spasms.
Ramachandrannair R, Ochi A, Imai K, Benifla M, Akiyama T, Holowka S, Rutka JT, Snead OC 3rd, Otsubo H
Epilepsy Res 2008 Feb;78(2-3):216-24. Epub 2008 Jan 22 doi: 10.1016/j.eplepsyres.2007.12.007. PMID: 18215506

Prognosis

Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I
Brain 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. PMID: 38015929Free PMC Article
Childhood-onset epilepsy in patients with dyskinetic cerebral palsy caused by basal ganglia and thalamic lesions.
Nishimoto S, Kitai Y, Hirai S, Hirotsune M, Okuyama N, Hirano S, Mogami Y, Arai H
Eur J Paediatr Neurol 2023 Nov;47:41-46. Epub 2023 Sep 7 doi: 10.1016/j.ejpn.2023.09.006. PMID: 37708783
Comparing late-onset epileptic spasm outcomes after corpus callosotomy and subsequent disconnection surgery between post-encephalitis/encephalopathy and non-encephalitis/encephalopathy.
Inoue T, Kuki I, Uda T, Kunihiro N, Umaba R, Koh S, Nukui M, Okazaki S, Otsubo H
Epilepsia Open 2023 Jun;8(2):346-359. Epub 2023 Feb 6 doi: 10.1002/epi4.12698. PMID: 36692212Free PMC Article
A tale of two cohorts: Differing outcomes in infantile-onset focal epilepsy.
Triplet EM, Nickels K, Wong-Kisiel L, Fine A, Wirrell EC
Epilepsia 2022 Apr;63(4):950-960. Epub 2022 Feb 10 doi: 10.1111/epi.17181. PMID: 35146752Free PMC Article
Neonatal neuroimaging and neurophysiology predict infantile onset epilepsy after perinatal hypoxic ischemic encephalopathy.
Nevalainen P, Metsäranta M, Toiviainen-Salo S, Marchi V, Mikkonen K, Vanhatalo S, Lauronen L
Seizure 2020 Aug;80:249-256. Epub 2020 Jul 4 doi: 10.1016/j.seizure.2020.07.002. PMID: 32663784

Clinical prediction guides

Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I
Brain 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. PMID: 38015929Free PMC Article
Comparing late-onset epileptic spasm outcomes after corpus callosotomy and subsequent disconnection surgery between post-encephalitis/encephalopathy and non-encephalitis/encephalopathy.
Inoue T, Kuki I, Uda T, Kunihiro N, Umaba R, Koh S, Nukui M, Okazaki S, Otsubo H
Epilepsia Open 2023 Jun;8(2):346-359. Epub 2023 Feb 6 doi: 10.1002/epi4.12698. PMID: 36692212Free PMC Article
The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study.
Kamaşak T, Serdaroğlu E, Yılmaz Ö, Kılıç BA, Polat BG, Erdoğan I, Yücel Şen AD, Özen N, Durgut BD, Yıldız N, Özkan Kart P, Dilber B, Arslan EA, Şahin S, Topçu Y, Gencpinar P, Serin HM, Hız SA, Çarman KB, Dündar NO, Okuyaz Ç, Aydın K, Serdaroğlu A, Tekgül H, Cansu A
Epilepsy Res 2022 Aug;184:106963. Epub 2022 Jun 6 doi: 10.1016/j.eplepsyres.2022.106963. PMID: 35749975
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I
Brain 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. PMID: 35190816Free PMC Article
Neonatal neuroimaging and neurophysiology predict infantile onset epilepsy after perinatal hypoxic ischemic encephalopathy.
Nevalainen P, Metsäranta M, Toiviainen-Salo S, Marchi V, Mikkonen K, Vanhatalo S, Lauronen L
Seizure 2020 Aug;80:249-256. Epub 2020 Jul 4 doi: 10.1016/j.seizure.2020.07.002. PMID: 32663784

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