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EEG with temporal focal spikes

MedGen UID:
868670
Concept ID:
C4023073
Finding
HPO: HP:0012018

Definition

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

Term Hierarchy

Conditions with this feature

Intellectual disability, autosomal dominant 42
MedGen UID:
934741
Concept ID:
C4310774
Mental or Behavioral Dysfunction
GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.

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
Steinhoff BJ, Staack AM
Epilepsy Behav 2019 Feb;91:4-8. Epub 2018 Jun 28 doi: 10.1016/j.yebeh.2018.05.025. PMID: 29960857
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

Recent clinical studies

Etiology

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
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
Kreuz T, Chicharro D, Houghton C, Andrzejak RG, Mormann F
J Neurophysiol 2013 Mar;109(5):1457-72. Epub 2012 Dec 5 doi: 10.1152/jn.00873.2012. PMID: 23221419
Truccolo W, Donoghue JA, Hochberg LR, Eskandar EN, Madsen JR, Anderson WS, Brown EN, Halgren E, Cash SS
Nat Neurosci 2011 May;14(5):635-41. Epub 2011 Mar 27 doi: 10.1038/nn.2782. PMID: 21441925Free PMC Article
Westmoreland BF, Klass DW
J Clin Neurophysiol 1990 Apr;7(2):209-28. doi: 10.1097/00004691-199004000-00005. PMID: 2187021

Diagnosis

Andrade-Machado R, Benjumea Cuartas V, Muhammad IK
Epilepsy Behav 2021 Apr;117:107830. Epub 2021 Feb 25 doi: 10.1016/j.yebeh.2021.107830. PMID: 33639439
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
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
Knowlton RC, Shih J
Epilepsia 2004;45 Suppl 4:61-71. doi: 10.1111/j.0013-9580.2004.04012.x. PMID: 15281961

Therapy

Lévesque M, Biagini G, Avoli M
Int J Mol Sci 2020 Dec 10;21(24) doi: 10.3390/ijms21249391. PMID: 33321734Free PMC Article
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
Steinhoff BJ, Staack AM
Epilepsy Behav 2019 Feb;91:4-8. Epub 2018 Jun 28 doi: 10.1016/j.yebeh.2018.05.025. PMID: 29960857
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
Dahl M, Dam M
Ann Clin Res 1985;17(5):235-42. PMID: 3936393

Prognosis

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
Steinhoff BJ, Staack AM
Epilepsy Behav 2019 Feb;91:4-8. Epub 2018 Jun 28 doi: 10.1016/j.yebeh.2018.05.025. PMID: 29960857
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
Pritchett DL, Siegle JH, Deister CA, Moore CI
Curr Opin Neurobiol 2015 Apr;31:254-63. Epub 2015 Mar 12 doi: 10.1016/j.conb.2015.02.004. PMID: 25770854
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

Clinical prediction guides

Diamond JM, Chapeton JI, Xie W, Jackson SN, Inati SK, Zaghloul KA
Nat Commun 2024 Aug 16;15(1):7075. doi: 10.1038/s41467-024-51338-1. PMID: 39152115Free PMC Article
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
Pritchett DL, Siegle JH, Deister CA, Moore CI
Curr Opin Neurobiol 2015 Apr;31:254-63. Epub 2015 Mar 12 doi: 10.1016/j.conb.2015.02.004. PMID: 25770854
Blume WT
Curr Opin Neurol 2001 Apr;14(2):193-7. doi: 10.1097/00019052-200104000-00010. PMID: 11262735

Recent systematic reviews

Nuara A, Mirandola L, Fabbri-Destro M, Giovannini G, Vecchiato G, Vaudano AE, Tassinari CA, Avanzini P, Meletti S
Clin Neurophysiol 2020 Oct;131(10):2393-2401. Epub 2020 Jul 18 doi: 10.1016/j.clinph.2020.06.028. PMID: 32828042
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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