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EEG with occipital focal spikes

MedGen UID:
868672
Concept ID:
C4023075
Finding
HPO: HP:0012016

Definition

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

Term Hierarchy

Conditions with this feature

Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
MedGen UID:
1794140
Concept ID:
C5561930
Disease or Syndrome
X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (MRXSPF) is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females (Villegas et al., 2019; Diaz et al., 2020).

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
Parisi P, Villa MP, Pelliccia A, Rollo VC, Chiarelli F, Verrotti A
Neurol Sci 2007 Apr;28(2):72-9. doi: 10.1007/s10072-007-0790-4. PMID: 17464469
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

Recent clinical studies

Etiology

Yayıcı Köken Ö, Şekeroğlu B, Şanlıdağ B, Sarı Yanartaş M, Yılmaz A
Neurol Res 2024 Jul;46(7):626-633. Epub 2024 Apr 21 doi: 10.1080/01616412.2024.2339114. PMID: 38643974
Klumpp M, Mangla R, Goel A
Radiology 2020 Dec;297(3):733-737. doi: 10.1148/radiol.2020190726. PMID: 33196372
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
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

Diagnosis

Maillard L, Ferrand M, Aron O, Cheval M, Tyvaert L, Jonas J, Vignal JP
Rev Neurol (Paris) 2022 Sep;178(7):644-648. Epub 2022 Jul 26 doi: 10.1016/j.neurol.2022.06.001. PMID: 35906139
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
Adcock JE, Panayiotopoulos CP
J Clin Neurophysiol 2012 Oct;29(5):397-407. doi: 10.1097/WNP.0b013e31826c98fe. PMID: 23027097
Westmoreland BF
Mayo Clin Proc 1996 May;71(5):501-11. doi: 10.4065/71.5.501. PMID: 8628033

Therapy

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
Adcock JE, Panayiotopoulos CP
J Clin Neurophysiol 2012 Oct;29(5):397-407. doi: 10.1097/WNP.0b013e31826c98fe. PMID: 23027097
Parisi P, Villa MP, Pelliccia A, Rollo VC, Chiarelli F, Verrotti A
Neurol Sci 2007 Apr;28(2):72-9. doi: 10.1007/s10072-007-0790-4. PMID: 17464469
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

Prognosis

Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717
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
Adcock JE, Panayiotopoulos CP
J Clin Neurophysiol 2012 Oct;29(5):397-407. doi: 10.1097/WNP.0b013e31826c98fe. PMID: 23027097
Blume WT
Curr Opin Neurol 2001 Apr;14(2):193-7. doi: 10.1097/00019052-200104000-00010. PMID: 11262735

Clinical prediction guides

Yayıcı Köken Ö, Şekeroğlu B, Şanlıdağ B, Sarı Yanartaş M, Yılmaz A
Neurol Res 2024 Jul;46(7):626-633. Epub 2024 Apr 21 doi: 10.1080/01616412.2024.2339114. PMID: 38643974
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Adcock JE, Panayiotopoulos CP
J Clin Neurophysiol 2012 Oct;29(5):397-407. doi: 10.1097/WNP.0b013e31826c98fe. PMID: 23027097
Curatolo P, Seri S, Verdecchia M, Bombardieri R
Brain Dev 2001 Nov;23(7):502-7. doi: 10.1016/s0387-7604(01)00300-x. PMID: 11701245
Blume WT
Curr Opin Neurol 2001 Apr;14(2):193-7. doi: 10.1097/00019052-200104000-00010. PMID: 11262735

Recent systematic reviews

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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