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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEEG with central focal spikes

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).
See: Condition Record
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies

Professional guidelines

PubMed

On the clinical utility of on-scalp MEG: A modeling study of epileptic activity source estimation.
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
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
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
Expert opinion: Proposed diagnostic and treatment algorithms for Lennox-Gastaut syndrome in adult patients.
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

Focality in childhood absence epilepsy.
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
Interictal and seizure-onset EEG patterns in malformations of cortical development: A systematic review.
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
Surgery for epilepsy.
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
Surgery for epilepsy.
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
Unusual EEG patterns.
Westmoreland BF, Klass DW
J Clin Neurophysiol 1990 Apr;7(2):209-28. doi: 10.1097/00004691-199004000-00005. PMID: 2187021

Diagnosis

DYNC1H1-related epilepsy: Genotype-phenotype correlation.
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
Expert opinion: Proposed diagnostic and treatment algorithms for Lennox-Gastaut syndrome in adult patients.
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
Surgery for epilepsy.
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
Surgery for epilepsy.
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
Neurophysiology of myoclonus.
Cassim F, Houdayer E
Neurophysiol Clin 2006 Sep-Dec;36(5-6):281-91. Epub 2006 Nov 13 doi: 10.1016/j.neucli.2006.10.001. PMID: 17336772

Therapy

Two cases of DYNC1H1 mutations with intractable epilepsy.
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
Expert opinion: Proposed diagnostic and treatment algorithms for Lennox-Gastaut syndrome in adult patients.
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
Surgery for epilepsy.
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
Idiopathic focal epilepsies: the "lost tribe".
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
Surgery for epilepsy.
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

Prognosis

Surgery for epilepsy.
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
Idiopathic focal epilepsies: the "lost tribe".
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
Surgery for epilepsy.
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
Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy.
Verrotti A, Spartà MV, Monacelli D, Porto R, Castagnino M, Russo Raucci A, Compagno F, Viglio S, Foiadelli T, Nicita F, Grosso S, Spalice A, Chiarelli F, Marseglia G, Savasta S
Epilepsia 2014 Aug;55(8):1213-9. Epub 2014 Jun 25 doi: 10.1111/epi.12699. PMID: 24965265
On the nature of seizure dynamics.
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

Focality in childhood absence epilepsy.
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
Interictal and seizure-onset EEG patterns in malformations of cortical development: A systematic review.
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
Surgery for epilepsy.
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
Surgery for epilepsy.
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
On the nature of seizure dynamics.
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

Recent systematic reviews

Interictal and seizure-onset EEG patterns in malformations of cortical development: A systematic review.
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
Surgery for epilepsy.
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
Surgery for epilepsy.
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
Comparison of antiepileptic drugs, no treatment, or placebo for children with benign epilepsy with centro temporal spikes.
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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