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EEG with frontal focal spikes

MedGen UID:
868673
Concept ID:
C4023076
Finding
HPO: HP:0012015

Definition

EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. [from HPO]

Term Hierarchy

Conditions with this feature

Developmental delay with or without epilepsy
MedGen UID:
1848555
Concept ID:
C5882702
Disease or Syndrome
Developmental delay with or without epilepsy (DEVEP) is a clinically heterogeneous neurodevelopmental disorder characterized by motor delay, speech delay, and variably impaired intellectual development apparent from infancy or early childhood. Hypotonia and behavioral abnormalities are common. About half of affected individuals develop various types of seizures that are not as severe as observed in the allelic disorder DEE5. In general, the phenotype is similar to but milder than DEE5. Some individuals with DEVEP have ataxia or nystagmus associated with cerebellar atrophy on brain imaging, indicating phenotypic overlap with the allelic disorder SPG91 (Morsy et al., 2023). In a study of 31 individuals with SPTAN1 mutations, Morsy et al. (2023) delineated 3 distinct phenotypic subgroups: DEE5; a milder phenotype of developmental delay with or without seizures (DEVEP); and pure or complicated spastic paraplegia/ataxia (SPG91). Syrbe et al. (2017) similarly emphasized the remarkably broad phenotypic spectrum of neurologic disorders associated with heterozygous SPTAN1 mutations in their cohort study.

Professional guidelines

PubMed

Westin K, Beniczky S, Pfeiffer C, Hämäläinen M, Lundqvist D
Clin Neurophysiol 2023 Dec;156:143-155. Epub 2023 Oct 31 doi: 10.1016/j.clinph.2023.10.006. PMID: 37951041
Hirsch E, de Saint-Martin A, Arzimanoglou A
Epilepsia 2000;41 Suppl 5:S13-17. doi: 10.1111/j.1528-1157.2000.tb06042.x. PMID: 11045435
Velasco F, Velasco M, Jiménez F, Velasco AL, Brito F, Rise M, Carrillo-Ruiz JD
Neurosurgery 2000 Aug;47(2):295-304; discussion 304-5. doi: 10.1097/00006123-200008000-00007. PMID: 10942002

Recent clinical studies

Etiology

Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M
Epileptic Disord 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. PMID: 27435520
Wang XL, Bao JX, Liang-Shi, Tie-Ma, Deng YC, Zhao G, Swa B, Liu YH
Epilepsy Behav 2014 Mar;32:64-71. Epub 2014 Feb 1 doi: 10.1016/j.yebeh.2013.12.016. PMID: 24495864
Blume WT
Brain 1998 Oct;121 ( Pt 10):1937-49. doi: 10.1093/brain/121.10.1937. PMID: 9798748
Tassinari CA, Rubboli G, Parmeggiani L, Valzania F, Plasmati R, Riguzzi P, Michelucci R, Volpi L, Passarelli D, Meletti S
Adv Neurol 1995;67:181-97. PMID: 8848969
Westmoreland BF, Klass DW
J Clin Neurophysiol 1990 Apr;7(2):209-28. doi: 10.1097/00004691-199004000-00005. PMID: 2187021

Diagnosis

Alawadhi A, Morgan AT, Mucha BE, Scheffer IE, Myers KA
Eur J Paediatr Neurol 2021 Jan;30:25-28. Epub 2020 Dec 24 doi: 10.1016/j.ejpn.2020.12.010. PMID: 33387902
Aricò M, Arigliani E, Giannotti F, Romani M
Epilepsy Behav 2020 Nov;112:107448. Epub 2020 Sep 21 doi: 10.1016/j.yebeh.2020.107448. PMID: 32916583
Wang XL, Bao JX, Liang-Shi, Tie-Ma, Deng YC, Zhao G, Swa B, Liu YH
Epilepsy Behav 2014 Mar;32:64-71. Epub 2014 Feb 1 doi: 10.1016/j.yebeh.2013.12.016. PMID: 24495864
Blume WT
Curr Opin Neurol 2001 Apr;14(2):193-7. doi: 10.1097/00019052-200104000-00010. PMID: 11262735
Tassinari CA, Rubboli G, Parmeggiani L, Valzania F, Plasmati R, Riguzzi P, Michelucci R, Volpi L, Passarelli D, Meletti S
Adv Neurol 1995;67:181-97. PMID: 8848969

Therapy

Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T
Brain Dev 2021 Sep;43(8):857-862. Epub 2021 Jun 3 doi: 10.1016/j.braindev.2021.05.005. PMID: 34092403
Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M
Epileptic Disord 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. PMID: 27435520
González W, Bautista RE
Seizure 2009 Nov;18(9):648-51. Epub 2009 Aug 7 doi: 10.1016/j.seizure.2009.07.003. PMID: 19665396
Hughes JR, Fino JJ
Clin Electroencephalogr 2003 Oct;34(4):174-81. doi: 10.1177/155005940303400403. PMID: 14560817
Dahl M, Dam M
Ann Clin Res 1985;17(5):235-42. PMID: 3936393

Prognosis

Aricò M, Arigliani E, Giannotti F, Romani M
Epilepsy Behav 2020 Nov;112:107448. Epub 2020 Sep 21 doi: 10.1016/j.yebeh.2020.107448. PMID: 32916583
Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M
Epileptic Disord 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. PMID: 27435520
Kaminska A, Oguni H
Handb Clin Neurol 2013;111:641-52. doi: 10.1016/B978-0-444-52891-9.00067-1. PMID: 23622212
Blume WT
Curr Opin Neurol 2001 Apr;14(2):193-7. doi: 10.1097/00019052-200104000-00010. PMID: 11262735
Blume WT
Brain 1998 Oct;121 ( Pt 10):1937-49. doi: 10.1093/brain/121.10.1937. PMID: 9798748

Clinical prediction guides

Özçelik EU, Çokar Ö, Demirbilek V
Neurophysiol Clin 2022 Aug;52(4):280-289. Epub 2022 Aug 8 doi: 10.1016/j.neucli.2022.07.003. PMID: 35953417
Unterberger I, Kaplan PW, Luef G, Trinka E, Walser G, Bauer G
Clin Neurophysiol 2020 Jan;131(1):40-45. Epub 2019 Oct 14 doi: 10.1016/j.clinph.2019.08.028. PMID: 31751838
Unterberger I, Trinka E, Kaplan PW, Walser G, Luef G, Bauer G
Epilepsia 2018 Mar;59(3):523-529. Epub 2018 Jan 11 doi: 10.1111/epi.13996. PMID: 29327337
Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M
Epileptic Disord 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. PMID: 27435520
Blume WT
Curr Opin Neurol 2001 Apr;14(2):193-7. doi: 10.1097/00019052-200104000-00010. PMID: 11262735

Recent systematic reviews

Yang JX, Yang MM, Han YJ, Gao CH, Cao J
Front Immunol 2023;14:1149987. Epub 2023 Apr 17 doi: 10.3389/fimmu.2023.1149987. PMID: 37138864Free PMC Article
Aricò M, Arigliani E, Giannotti F, Romani M
Epilepsy Behav 2020 Nov;112:107448. Epub 2020 Sep 21 doi: 10.1016/j.yebeh.2020.107448. PMID: 32916583
Nuara A, Mirandola L, Fabbri-Destro M, Giovannini G, Vecchiato G, Vaudano AE, Tassinari CA, Avanzini P, Meletti S
Clin Neurophysiol 2020 Oct;131(10):2393-2401. Epub 2020 Jul 18 doi: 10.1016/j.clinph.2020.06.028. PMID: 32828042

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