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EEG with focal spike waves

MedGen UID:
869059
Concept ID:
C4023477
Finding
HPO: HP:0011197

Definition

EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. [from HPO]

Term Hierarchy

Conditions with this feature

Kohlschutter-Tonz syndrome-like
MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).

Professional guidelines

PubMed

Liu W, Cheng M, Zhu Y, Chen Y, Yang Y, Chen H, Niu X, Tian X, Yang X, Zhang Y
Dev Med Child Neurol 2023 Apr;65(4):534-543. Epub 2022 Sep 29 doi: 10.1111/dmcn.15414. PMID: 36175372
Lee IC, Chang MY, Liang JS, Chang TM
J Formos Med Assoc 2021 Jan;120(1 Pt 3):744-754. Epub 2020 Aug 27 doi: 10.1016/j.jfma.2020.08.014. PMID: 32863083
Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V
Am J Med Genet A 2015 Jan;167A(1):111-22. Epub 2014 Nov 25 doi: 10.1002/ajmg.a.36807. PMID: 25425167

Recent clinical studies

Etiology

Semprino M, Galicchio S, Espeche A, Cersosimo R, Chacon S, Gamboni B, Adi J, Fasulo L, Fortini S, Cachia P, Gallo A, Caraballo RH
Epilepsy Behav 2022 Mar;128:108552. Epub 2022 Jan 18 doi: 10.1016/j.yebeh.2022.108552. PMID: 35063695
Vigevano F, Specchio N, Fejerman N
Handb Clin Neurol 2013;111:591-604. doi: 10.1016/B978-0-444-52891-9.00061-0. PMID: 23622206
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Blume WT
Brain 1998 Oct;121 ( Pt 10):1937-49. doi: 10.1093/brain/121.10.1937. PMID: 9798748
Westmoreland BF, Klass DW
J Clin Neurophysiol 1990 Apr;7(2):209-28. doi: 10.1097/00004691-199004000-00005. PMID: 2187021

Diagnosis

Liu W, Cheng M, Zhu Y, Chen Y, Yang Y, Chen H, Niu X, Tian X, Yang X, Zhang Y
Dev Med Child Neurol 2023 Apr;65(4):534-543. Epub 2022 Sep 29 doi: 10.1111/dmcn.15414. PMID: 36175372
Lagarde S, Bartolomei F
Handb Clin Neurol 2019;161:17-43. doi: 10.1016/B978-0-444-64142-7.00039-4. PMID: 31307599
Chen H, Koubeissi MZ
Continuum (Minneap Minn) 2019 Apr;25(2):431-453. doi: 10.1212/CON.0000000000000705. PMID: 30921017
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Westmoreland BF
Mayo Clin Proc 1996 May;71(5):501-11. doi: 10.4065/71.5.501. PMID: 8628033

Therapy

Yan L, Deng Y, Chen J, Hu Y, Hong S, Jiang L
Epilepsy Behav 2022 Oct;135:108902. Epub 2022 Sep 5 doi: 10.1016/j.yebeh.2022.108902. PMID: 36081241
Lévesque M, Biagini G, Avoli M
Int J Mol Sci 2020 Dec 10;21(24) doi: 10.3390/ijms21249391. PMID: 33321734Free PMC Article
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
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Hirsch E, Valenti MP, Rudolf G, Seegmuller C, de Saint Martin A, Maquet P, Wioland N, Metz-Lutz MN, Marescaux C, Arzimanoglou A
Epilepsy Res 2006 Aug;70 Suppl 1:S239-47. Epub 2006 Jun 27 doi: 10.1016/j.eplepsyres.2006.02.010. PMID: 16806832

Prognosis

Caraballo R, Pavlidis E, Nikanorova M, Loddenkemper T
Epileptic Disord 2019 Jun 1;21(S1):15-21. doi: 10.1684/epd.2019.1052. PMID: 31262717
Filippini M, Arzimanoglou A, Gobbi G
Epilepsia 2013 Nov;54 Suppl 8:38-44. doi: 10.1111/epi.12422. PMID: 24571116
Vigevano F, Specchio N, Fejerman N
Handb Clin Neurol 2013;111:591-604. doi: 10.1016/B978-0-444-52891-9.00061-0. PMID: 23622206
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Blume WT
Brain 1998 Oct;121 ( Pt 10):1937-49. doi: 10.1093/brain/121.10.1937. PMID: 9798748

Clinical prediction guides

Yan L, Deng Y, Chen J, Hu Y, Hong S, Jiang L
Epilepsy Behav 2022 Oct;135:108902. Epub 2022 Sep 5 doi: 10.1016/j.yebeh.2022.108902. PMID: 36081241
Lagarde S, Bartolomei F
Handb Clin Neurol 2019;161:17-43. doi: 10.1016/B978-0-444-64142-7.00039-4. PMID: 31307599
Caraballo R, Pavlidis E, Nikanorova M, Loddenkemper T
Epileptic Disord 2019 Jun 1;21(S1):15-21. doi: 10.1684/epd.2019.1052. PMID: 31262717
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Buzsáki G, Wang XJ
Annu Rev Neurosci 2012;35:203-25. Epub 2012 Mar 20 doi: 10.1146/annurev-neuro-062111-150444. PMID: 22443509Free PMC Article

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
Brussé IA, Peters NC, Steegers EA, Duvekot JJ, Visser GH
Obstet Gynecol Surv 2010 Dec;65(12):794-803. doi: 10.1097/OGX.0b013e31821286f1. PMID: 21411024

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