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Focal aware epileptic spasm

MedGen UID:
1718482
•Concept ID:
C5397851
•
Disease or Syndrome
HPO: HP:0032845

Definition

A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal aware epileptic spasm

Recent clinical studies

Etiology

ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.
Córdoba NM, Lince-Rivera I, Gómez JLR, Rubboli G, De la Rosa SO
Epileptic Disord 2024 Jun;26(3):332-340. Epub 2024 Mar 21 doi: 10.1002/epd2.20220. PMID: 38512072
Epilepsy in neurofibromatosis type 1: Diffuse cerebral dysfunction?
Serdaroglu E, Konuskan B, Karli Oguz K, Gurler G, Yalnizoglu D, Anlar B
Epilepsy Behav 2019 Sep;98(Pt A):6-9. Epub 2019 Jul 9 doi: 10.1016/j.yebeh.2019.06.022. PMID: 31299535
Risk factors of cognitive impairment in pediatric epilepsy patients with focal cortical dysplasia.
Kimura N, Takahashi Y, Shigematsu H, Imai K, Ikeda H, Ootani H, Takayama R, Mogami Y, Kimura N, Baba K, Matsuda K, Tottori T, Usui N, Kondou S, Inoue Y
Brain Dev 2019 Jan;41(1):77-84. Epub 2018 Jul 31 doi: 10.1016/j.braindev.2018.07.014. PMID: 30075883
Association between infantile spasms and nonaccidental head injury.
Birca A, D'Anjou G, Carmant L
J Child Neurol 2014 May;29(5):695-7. Epub 2013 Apr 11 doi: 10.1177/0883073813483901. PMID: 23580697

Diagnosis

Duration of epileptic seizure types: A data-driven approach.
Meritam Larsen P, Wüstenhagen S, Terney D, Gardella E, Aurlien H, Beniczky S
Epilepsia 2023 Feb;64(2):469-478. Epub 2023 Jan 3 doi: 10.1111/epi.17492. PMID: 36597206Free PMC Article
Dravet syndrome in children-A population-based study.
Bjurulf B, Reilly C, Sigurdsson GV, Thunström S, Kolbjer S, Hallböök T
Epilepsy Res 2022 May;182:106922. Epub 2022 Apr 8 doi: 10.1016/j.eplepsyres.2022.106922. PMID: 35461153
A systematic review of adults with Dravet syndrome.
Selvarajah A, Zulfiqar-Ali Q, Marques P, Rong M, Andrade DM
Seizure 2021 Apr;87:39-45. Epub 2021 Feb 22 doi: 10.1016/j.seizure.2021.02.025. PMID: 33677403
Electroencephalography in neonatal epilepsies.
Okumura A
Pediatr Int 2020 Sep;62(9):1019-1028. doi: 10.1111/ped.14227. PMID: 32153072
Epilepsy in neurofibromatosis type 1: Diffuse cerebral dysfunction?
Serdaroglu E, Konuskan B, Karli Oguz K, Gurler G, Yalnizoglu D, Anlar B
Epilepsy Behav 2019 Sep;98(Pt A):6-9. Epub 2019 Jul 9 doi: 10.1016/j.yebeh.2019.06.022. PMID: 31299535

Therapy

ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.
Córdoba NM, Lince-Rivera I, Gómez JLR, Rubboli G, De la Rosa SO
Epileptic Disord 2024 Jun;26(3):332-340. Epub 2024 Mar 21 doi: 10.1002/epd2.20220. PMID: 38512072
Long-term safety and effectiveness of stiripentol in patients with Dravet syndrome: Interim report of a post-marketing surveillance study in Japan.
Yamada M, Suzuki K, Matsui D, Inoue Y, Ohtsuka Y
Epilepsy Res 2021 Feb;170:106535. Epub 2020 Dec 31 doi: 10.1016/j.eplepsyres.2020.106535. PMID: 33388609
Ketogenic diet as a successful early treatment modality for SCN2A mutation.
Turkdogan D, Thomas G, Demirel B
Brain Dev 2019 Apr;41(4):389-391. Epub 2018 Nov 8 doi: 10.1016/j.braindev.2018.10.015. PMID: 30415926

Prognosis

ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report.
Moriyama K, Mizuno T, Suzuki T, Inaji M, Maehara T, Fujita A, Kato M, Matsumoto N
Brain Dev 2023 Jan;45(1):77-81. Epub 2022 Sep 14 doi: 10.1016/j.braindev.2022.08.009. PMID: 36114075
Risk factors of cognitive impairment in pediatric epilepsy patients with focal cortical dysplasia.
Kimura N, Takahashi Y, Shigematsu H, Imai K, Ikeda H, Ootani H, Takayama R, Mogami Y, Kimura N, Baba K, Matsuda K, Tottori T, Usui N, Kondou S, Inoue Y
Brain Dev 2019 Jan;41(1):77-84. Epub 2018 Jul 31 doi: 10.1016/j.braindev.2018.07.014. PMID: 30075883
Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area.
Falsaperla R, Perciavalle V, Pavone P, Praticò AD, Elia M, Ruggieri M, Caraballo R, Striano P
Clin EEG Neurosci 2016 Jul;47(3):243-6. Epub 2014 Sep 1 doi: 10.1177/1550059414533111. PMID: 25179638

Clinical prediction guides

Duration of epileptic seizure types: A data-driven approach.
Meritam Larsen P, Wüstenhagen S, Terney D, Gardella E, Aurlien H, Beniczky S
Epilepsia 2023 Feb;64(2):469-478. Epub 2023 Jan 3 doi: 10.1111/epi.17492. PMID: 36597206Free PMC Article
Long-term safety and effectiveness of stiripentol in patients with Dravet syndrome: Interim report of a post-marketing surveillance study in Japan.
Yamada M, Suzuki K, Matsui D, Inoue Y, Ohtsuka Y
Epilepsy Res 2021 Feb;170:106535. Epub 2020 Dec 31 doi: 10.1016/j.eplepsyres.2020.106535. PMID: 33388609
Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area.
Falsaperla R, Perciavalle V, Pavone P, Praticò AD, Elia M, Ruggieri M, Caraballo R, Striano P
Clin EEG Neurosci 2016 Jul;47(3):243-6. Epub 2014 Sep 1 doi: 10.1177/1550059414533111. PMID: 25179638
How to establish causality in epilepsy surgery.
Asano E, Brown EC, Juhász C
Brain Dev 2013 Sep;35(8):706-20. Epub 2013 May 15 doi: 10.1016/j.braindev.2013.04.004. PMID: 23684007Free PMC Article

Recent systematic reviews

A systematic review of adults with Dravet syndrome.
Selvarajah A, Zulfiqar-Ali Q, Marques P, Rong M, Andrade DM
Seizure 2021 Apr;87:39-45. Epub 2021 Feb 22 doi: 10.1016/j.seizure.2021.02.025. PMID: 33677403

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