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EEG with parietal focal spikes

MedGen UID:
868671
Concept ID:
C4023074
Finding
HPO: HP:0012017

Definition

EEG with focal sharp transient waves of a duration less than 80 msec in the parietal 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

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
Epitashvili N, San Antonio-Arce V, Brandt A, Schulze-Bonhage A
Clin Neurophysiol 2021 Sep;132(9):2146-2151. Epub 2021 Jun 15 doi: 10.1016/j.clinph.2021.05.019. PMID: 34284250
Klumpp M, Mangla R, Goel A
Radiology 2020 Dec;297(3):733-737. doi: 10.1148/radiol.2020190726. PMID: 33196372
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
Westmoreland BF, Klass DW
J Clin Neurophysiol 1990 Apr;7(2):209-28. doi: 10.1097/00004691-199004000-00005. PMID: 2187021

Diagnosis

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
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
Epitashvili N, San Antonio-Arce V, Brandt A, Schulze-Bonhage A
Clin Neurophysiol 2021 Sep;132(9):2146-2151. Epub 2021 Jun 15 doi: 10.1016/j.clinph.2021.05.019. PMID: 34284250
Blume WT
Curr Opin Neurol 2001 Apr;14(2):193-7. doi: 10.1097/00019052-200104000-00010. PMID: 11262735
Westmoreland BF
Epilepsia 1998;39 Suppl 4:S1-8. doi: 10.1111/j.1528-1157.1998.tb05121.x. PMID: 9637588

Therapy

Shibata T, Tsuchiya H, Akiyama M, Akiyama T, Kobayashi K
Epilepsy Res 2024 May;202:107359. Epub 2024 Apr 4 doi: 10.1016/j.eplepsyres.2024.107359. PMID: 38582072
Katyal R, Jamal-Omidi S, Kubota T, Garcia-Losarcos N, Luders H
Epileptic Disord 2023 Apr;25(2):131-141. Epub 2023 May 6 doi: 10.1002/epd2.20002. PMID: 37283354
Fisher RS, McGinn RJ, Von Stein EL, Wu TQ, Qing KY, Fogarty A, Razavi B, Venkatasubramanian C
Epilepsia 2023 Apr;64(4):875-887. Epub 2023 Feb 7 doi: 10.1111/epi.17514. PMID: 36661376
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
Khachidze I, Gugushvili M, Makashvili M, Maloletnev V
Int J Neurosci 2016 Oct;126(10):912-21. Epub 2015 Aug 17 doi: 10.3109/00207454.2015.1083991. PMID: 26290045

Prognosis

Porat Rein A, Kramer U, Hausman Kedem M, Fattal-Valevski A, Mitelpunkt A
Brain Dev 2021 Feb;43(2):268-279. Epub 2020 Sep 8 doi: 10.1016/j.braindev.2020.08.013. PMID: 32912653
Asadollahi M, Sperling MR, Rabiei AH, Asadi-Pooya AA
Epileptic Disord 2017 Mar 1;19(1):35-39. doi: 10.1684/epd.2017.0893. PMID: 28256447
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
Sveinbjornsdottir S, Duncan JS
Epilepsia 1993 May-Jun;34(3):493-521. doi: 10.1111/j.1528-1157.1993.tb02590.x. PMID: 8504783

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
Surmeli R, Yeni SN, Demirbilek AV
Neurol Sci 2021 Nov;42(11):4607-4613. Epub 2021 Mar 4 doi: 10.1007/s10072-021-05154-w. PMID: 33661483
Porat Rein A, Kramer U, Hausman Kedem M, Fattal-Valevski A, Mitelpunkt A
Brain Dev 2021 Feb;43(2):268-279. Epub 2020 Sep 8 doi: 10.1016/j.braindev.2020.08.013. PMID: 32912653
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

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