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EEG with focal epileptiform discharges

MedGen UID:
866845
Concept ID:
C4021199
Finding
Synonym: Focal EEG Abnormality
 
HPO: HP:0011185

Definition

EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • EEG with focal epileptiform discharges

Conditions with this feature

Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
MedGen UID:
1672905
Concept ID:
C5193124
Disease or Syndrome
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea. Patients may have significant breathing problems during respiratory infections that may lead to early death (summary by Rahikkala et al., 2019).

Professional guidelines

PubMed

Xu X, Wang Q, Zhao Y, Xu X, Gan Z, Zhang S, Chen X
Brain Behav 2023 Oct;13(10):e3184. Epub 2023 Jul 26 doi: 10.1002/brb3.3184. PMID: 37492027Free PMC Article
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
Giorgi FS, Guida M, Vergallo A, Bonuccelli U, Zaccara G
Expert Rev Neurother 2017 Mar;17(3):309-318. Epub 2016 Oct 11 doi: 10.1080/14737175.2017.1243469. PMID: 27687685

Recent clinical studies

Etiology

Kučikienė D, Rajkumar R, Timpte K, Heckelmann J, Neuner I, Weber Y, Wolking S
Epilepsia 2024 Apr;65(4):974-983. Epub 2024 Jan 30 doi: 10.1111/epi.17897. PMID: 38289522
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
Singh J, Gopal M, Amin A, Peng J
Epileptic Disord 2022 Feb 1;24(1):75-81. doi: 10.1684/epd.2021.1363. PMID: 34750097
Duque KR, Burneo JG
Epilepsy Behav 2017 Nov;76:151-157. Epub 2017 Sep 5 doi: 10.1016/j.yebeh.2017.08.008. PMID: 28882721
Lee EH, Choi YS, Yoon HS, Bahn GH
J Child Neurol 2016 Apr;31(5):584-8. Epub 2015 Sep 4 doi: 10.1177/0883073815604223. PMID: 26341812

Diagnosis

Frauscher B, Mansilla D, Abdallah C, Astner-Rohracher A, Beniczky S, Brazdil M, Gnatkovsky V, Jacobs J, Kalamangalam G, Perucca P, Ryvlin P, Schuele S, Tao J, Wang Y, Zijlmans M, McGonigal A
Epileptic Disord 2024 Feb;26(1):1-59. Epub 2024 Feb 13 doi: 10.1002/epd2.20190. PMID: 38116690
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
Chen H, Koubeissi MZ
Continuum (Minneap Minn) 2019 Apr;25(2):431-453. doi: 10.1212/CON.0000000000000705. PMID: 30921017
Brigo F, Rossini F, Stefani A, Nardone R, Tezzon F, Fiaschi A, Manganotti P, Bongiovanni LG
Clin Neurophysiol 2013 Feb;124(2):221-7. Epub 2012 Aug 24 doi: 10.1016/j.clinph.2012.07.017. PMID: 22925838
Beleza P, Pinho J
J Clin Neurosci 2011 May;18(5):593-600. Epub 2011 Feb 23 doi: 10.1016/j.jocn.2010.08.018. PMID: 21349720

Therapy

Pan G, Han Y, Wang TC, Chen ZY, Wang XQ, Sun HB, Liu YH, Wang Q, Lin WH, Li JM, Zhou SZ, Zhang YH
World J Pediatr 2024 Oct;20(10):1070-1078. Epub 2024 May 28 doi: 10.1007/s12519-024-00813-2. PMID: 38806855
Blanpain LT, Cole ER, Chen E, Park JK, Walelign MY, Gross RE, Cabaniss BT, Willie JT, Singer AC
Nat Commun 2024 Apr 11;15(1):3156. doi: 10.1038/s41467-024-47263-y. PMID: 38605017Free PMC Article
Singh J, Gopal M, Amin A, Peng J
Epileptic Disord 2022 Feb 1;24(1):75-81. doi: 10.1684/epd.2021.1363. PMID: 34750097
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
Tatum WO, Feyissa AM, ReFaey K, Grewal SS, Alvi MA, Castro-Apolo R, Roth G, Segura-Duran I, Mahato D, Ruiz-Garcia H, Pamias-Portalatin E, Yelvington K, Chaichana K, Bechtle P, Quinones-Hinojosa A
Clin Neurophysiol 2019 Aug;130(8):1320-1328. Epub 2019 May 31 doi: 10.1016/j.clinph.2019.04.718. PMID: 31185363

Prognosis

Frauscher B, Mansilla D, Abdallah C, Astner-Rohracher A, Beniczky S, Brazdil M, Gnatkovsky V, Jacobs J, Kalamangalam G, Perucca P, Ryvlin P, Schuele S, Tao J, Wang Y, Zijlmans M, McGonigal A
Epileptic Disord 2024 Feb;26(1):1-59. Epub 2024 Feb 13 doi: 10.1002/epd2.20190. PMID: 38116690
Sonneville R, Benghanem S, Jeantin L, de Montmollin E, Doman M, Gaudemer A, Thy M, Timsit JF
Crit Care 2023 Oct 5;27(1):386. doi: 10.1186/s13054-023-04655-8. PMID: 37798769Free PMC Article
Amini L, Jutten C, Achard S, David O, Soltanian-Zadeh H, Hossein-Zadeh GA, Kahane P, Minotti L, Vercueil L
IEEE Trans Biomed Eng 2011 Apr;58(4):884-93. Epub 2010 Dec 13 doi: 10.1109/TBME.2010.2099227. PMID: 21156385Free PMC Article
Brenner RP
Epilepsia 2002;43 Suppl 3:103-13. doi: 10.1046/j.1528-1157.43.s.3.9.x. PMID: 12060012
Sato S, Balish M, Muratore R
J Clin Neurophysiol 1991 Apr;8(2):144-56. doi: 10.1097/00004691-199104000-00003. PMID: 2050815

Clinical prediction guides

Wang Y, Yu P, Zhu G, Wu X, Ding D, Hong Z
PLoS One 2023;18(4):e0284924. Epub 2023 Apr 26 doi: 10.1371/journal.pone.0284924. PMID: 37099548Free PMC Article
Lagarde S, Bartolomei F
Handb Clin Neurol 2019;161:17-43. doi: 10.1016/B978-0-444-64142-7.00039-4. PMID: 31307599
Boutros NN
CNS Spectr 2018 Jun;23(3):196-204. Epub 2017 Aug 2 doi: 10.1017/S1092852917000505. PMID: 28766469
Brigo F, Rossini F, Stefani A, Nardone R, Tezzon F, Fiaschi A, Manganotti P, Bongiovanni LG
Clin Neurophysiol 2013 Feb;124(2):221-7. Epub 2012 Aug 24 doi: 10.1016/j.clinph.2012.07.017. PMID: 22925838
Amini L, Jutten C, Achard S, David O, Soltanian-Zadeh H, Hossein-Zadeh GA, Kahane P, Minotti L, Vercueil L
IEEE Trans Biomed Eng 2011 Apr;58(4):884-93. Epub 2010 Dec 13 doi: 10.1109/TBME.2010.2099227. PMID: 21156385Free PMC Article

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
Antony AR, Haneef Z
Seizure 2020 Dec;83:234-241. Epub 2020 Oct 19 doi: 10.1016/j.seizure.2020.10.014. PMID: 33121875Free PMC Article
Roberto KT, Espiritu AI, Fernandez MLL, Gutierrez JC
Seizure 2020 Nov;82:17-22. Epub 2020 Sep 15 doi: 10.1016/j.seizure.2020.09.007. PMID: 32957032Free PMC Article
Kasteleijn-Nolst Trenite D, Genton P, Brandt C, Reed RC
Epilepsy Res 2017 Jul;133:113-120. Epub 2016 Dec 2 doi: 10.1016/j.eplepsyres.2016.11.012. PMID: 28034485
Chen R, Spencer DC, Weston J, Nolan SJ
Cochrane Database Syst Rev 2016 Aug 11;(8):CD011025. doi: 10.1002/14651858.CD011025.pub2. PMID: 27513825

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