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EEG with central focal spikes

MedGen UID:
868674
Concept ID:
C4023077
Finding
HPO: HP:0012014

Definition

EEG with focal sharp transient waves of a duration less than 80 msec in the central 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
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
Montouris G, Aboumatar S, Burdette D, Kothare S, Kuzniecky R, Rosenfeld W, Chung S
Epilepsy Behav 2020 Sep;110:107146. Epub 2020 Jun 18 doi: 10.1016/j.yebeh.2020.107146. PMID: 32563898

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
Shakhatreh L, Janmohamed M, Baker AA, Willard A, Laing J, Rychkova M, Chen Z, Kwan P, O'Brien TJ, Perucca P
Neurobiol Dis 2022 Nov;174:105863. Epub 2022 Sep 19 doi: 10.1016/j.nbd.2022.105863. PMID: 36165814
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
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
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
Montouris G, Aboumatar S, Burdette D, Kothare S, Kuzniecky R, Rosenfeld W, Chung S
Epilepsy Behav 2020 Sep;110:107146. Epub 2020 Jun 18 doi: 10.1016/j.yebeh.2020.107146. PMID: 32563898
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264

Therapy

Montouris G, Aboumatar S, Burdette D, Kothare S, Kuzniecky R, Rosenfeld W, Chung S
Epilepsy Behav 2020 Sep;110:107146. Epub 2020 Jun 18 doi: 10.1016/j.yebeh.2020.107146. PMID: 32563898
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free 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
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
Tan HJ, Singh J, Gupta R, de Goede C
Cochrane Database Syst Rev 2014 Sep 5;2014(9):CD006779. doi: 10.1002/14651858.CD006779.pub2. PMID: 25190506Free PMC Article

Prognosis

Sklenarova B, Zatloukalova E, Cimbalnik J, Klimes P, Dolezalova I, Pail M, Kocvarova J, Hendrych M, Hermanova M, Gotman J, Dubeau F, Hall J, Pana R, Frauscher B, Brazdil M
Epilepsia 2023 Nov;64(11):3049-3060. Epub 2023 Sep 5 doi: 10.1111/epi.17749. PMID: 37592755
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free 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
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
Jirsa VK, Stacey WC, Quilichini PP, Ivanov AI, Bernard C
Brain 2014 Aug;137(Pt 8):2210-30. Epub 2014 Jun 11 doi: 10.1093/brain/awu133. PMID: 24919973Free PMC Article

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
Shakhatreh L, Janmohamed M, Baker AA, Willard A, Laing J, Rychkova M, Chen Z, Kwan P, O'Brien TJ, Perucca P
Neurobiol Dis 2022 Nov;174:105863. Epub 2022 Sep 19 doi: 10.1016/j.nbd.2022.105863. PMID: 36165814
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free 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
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264

Recent systematic reviews

Shakhatreh L, Janmohamed M, Baker AA, Willard A, Laing J, Rychkova M, Chen Z, Kwan P, O'Brien TJ, Perucca P
Neurobiol Dis 2022 Nov;174:105863. Epub 2022 Sep 19 doi: 10.1016/j.nbd.2022.105863. PMID: 36165814
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264
Tan HJ, Singh J, Gupta R, de Goede C
Cochrane Database Syst Rev 2014 Sep 5;2014(9):CD006779. doi: 10.1002/14651858.CD006779.pub2. PMID: 25190506Free PMC Article

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