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EEG with temporal sharp slow waves

MedGen UID:
869010
Concept ID:
C4023427
Finding
HPO: HP:0011289

Definition

EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEEG with temporal sharp slow waves

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.

Recent clinical studies

Etiology

Sun Y, Qin X, Huang D, Zhou Z, Zhang Y, Wang Q
Front Immunol 2023;14:1084883. Epub 2023 Apr 5 doi: 10.3389/fimmu.2023.1084883. PMID: 37090693Free PMC Article
Mendes RAV, Zacharias LR, Ruggiero RN, Leite JP, Moraes MFD, Lopes-Aguiar C
Epilepsy Behav 2021 Aug;121(Pt B):106608. Epub 2019 Nov 15 doi: 10.1016/j.yebeh.2019.106608. PMID: 31740330
Zhu F, Shan W, Lv R, Li Z, Wang Q
Acta Neurol Scand 2020 Sep;142(3):281-293. Epub 2020 Jun 15 doi: 10.1111/ane.13281. PMID: 32416610
Inui K, Motomura E, Kaige H, Nomura S
Psychiatry Clin Neurosci 2001 Oct;55(5):525-31. doi: 10.1046/j.1440-1819.2001.00900.x. PMID: 11555350
Westmoreland BF, Klass DW
J Clin Neurophysiol 1990 Apr;7(2):209-28. doi: 10.1097/00004691-199004000-00005. PMID: 2187021

Diagnosis

Sun Y, Qin X, Huang D, Zhou Z, Zhang Y, Wang Q
Front Immunol 2023;14:1084883. Epub 2023 Apr 5 doi: 10.3389/fimmu.2023.1084883. PMID: 37090693Free PMC Article
Bruzzone MJ, Issa NP, Wu S, Rose S, Esengul YT, Towle VL, Nordli D, Warnke PC, Tao JX
Epilepsy Res 2022 May;182:106914. Epub 2022 Mar 30 doi: 10.1016/j.eplepsyres.2022.106914. PMID: 35367692
Zhu F, Shan W, Lv R, Li Z, Wang Q
Acta Neurol Scand 2020 Sep;142(3):281-293. Epub 2020 Jun 15 doi: 10.1111/ane.13281. PMID: 32416610
Inui K, Motomura E, Kaige H, Nomura S
Psychiatry Clin Neurosci 2001 Oct;55(5):525-31. doi: 10.1046/j.1440-1819.2001.00900.x. PMID: 11555350
Westmoreland BF
Mayo Clin Proc 1996 May;71(5):501-11. doi: 10.4065/71.5.501. PMID: 8628033

Therapy

Zhu F, Shan W, Lv R, Li Z, Wang Q
Acta Neurol Scand 2020 Sep;142(3):281-293. Epub 2020 Jun 15 doi: 10.1111/ane.13281. PMID: 32416610
Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G
Am J Med Genet A 2016 Oct;170(10):2531-9. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37844. PMID: 27513709
Zhou J, Zheng H, Zhong X, Wu D, Wang M, Tang X, Li Q
Nephrology (Carlton) 2015 Nov;20(11):849-54. doi: 10.1111/nep.12518. PMID: 26014660
Hughes JR
Clin Electroencephalogr 1996 Jan;27(1):35-9. doi: 10.1177/155005949602700106. PMID: 8719500
Todnem K, Nyland H, Dick AP, Lind O, Svihus R, Molvaer OI, Aarli JA
Acta Neurol Scand 1989 Oct;80(4):333-40. doi: 10.1111/j.1600-0404.1989.tb03889.x. PMID: 2816291

Prognosis

Sun Y, Qin X, Huang D, Zhou Z, Zhang Y, Wang Q
Front Immunol 2023;14:1084883. Epub 2023 Apr 5 doi: 10.3389/fimmu.2023.1084883. PMID: 37090693Free PMC Article
Zhu F, Shan W, Lv R, Li Z, Wang Q
Acta Neurol Scand 2020 Sep;142(3):281-293. Epub 2020 Jun 15 doi: 10.1111/ane.13281. PMID: 32416610
Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G
Am J Med Genet A 2016 Oct;170(10):2531-9. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37844. PMID: 27513709
Zhou J, Zheng H, Zhong X, Wu D, Wang M, Tang X, Li Q
Nephrology (Carlton) 2015 Nov;20(11):849-54. doi: 10.1111/nep.12518. PMID: 26014660
Jung WY, Pacia SV, Devinsky O
J Clin Neurophysiol 1999 Sep;16(5):419-25. doi: 10.1097/00004691-199909000-00003. PMID: 10576224

Clinical prediction guides

Sun Y, Qin X, Huang D, Zhou Z, Zhang Y, Wang Q
Front Immunol 2023;14:1084883. Epub 2023 Apr 5 doi: 10.3389/fimmu.2023.1084883. PMID: 37090693Free PMC Article
Bruzzone MJ, Issa NP, Wu S, Rose S, Esengul YT, Towle VL, Nordli D, Warnke PC, Tao JX
Epilepsy Res 2022 May;182:106914. Epub 2022 Mar 30 doi: 10.1016/j.eplepsyres.2022.106914. PMID: 35367692
Mendes RAV, Zacharias LR, Ruggiero RN, Leite JP, Moraes MFD, Lopes-Aguiar C
Epilepsy Behav 2021 Aug;121(Pt B):106608. Epub 2019 Nov 15 doi: 10.1016/j.yebeh.2019.106608. PMID: 31740330
Zhu F, Shan W, Lv R, Li Z, Wang Q
Acta Neurol Scand 2020 Sep;142(3):281-293. Epub 2020 Jun 15 doi: 10.1111/ane.13281. PMID: 32416610
Atalar AÇ, Vanlı-Yavuz EN, Yılmaz E, Bebek N, Baykan B
Clin EEG Neurosci 2019 Nov;50(6):413-422. Epub 2019 Jun 28 doi: 10.1177/1550059419841837. PMID: 31248273

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