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EEG with focal spikes

MedGen UID:
869063
Concept ID:
C4023481
Finding
HPO: HP:0011193

Definition

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

Conditions with this feature

Intellectual disability, autosomal recessive 53
MedGen UID:
934761
Concept ID:
C4310794
Disease or Syndrome
Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) is an autosomal recessive disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar atrophy, ataxia, and nonspecific dysmorphic features. NEDHSCA is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway. Some patients with NEDHSCA may have the Emm-null blood group phenotype (see 619812) (summary by Makrythanasis et al., 2016; Duval et al., 2021). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).

Professional guidelines

PubMed

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
Oguni H
Eur J Paediatr Neurol 2022 Jan;36:37-50. Epub 2021 Dec 1 doi: 10.1016/j.ejpn.2021.11.009. PMID: 34883415
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

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
Nalbantoglu M , Tan OO
Ideggyogy Sz 2019 Mar 30;72(3-4):111-114. doi: 10.18071/isz.72.0111. PMID: 30957465
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
Blume WT
Brain 1998 Oct;121 ( Pt 10):1937-49. doi: 10.1093/brain/121.10.1937. PMID: 9798748
Westmoreland BF, Klass DW
J Clin Neurophysiol 1990 Apr;7(2):209-28. doi: 10.1097/00004691-199004000-00005. PMID: 2187021

Diagnosis

Chen H, Koubeissi MZ
Continuum (Minneap Minn) 2019 Apr;25(2):431-453. doi: 10.1212/CON.0000000000000705. PMID: 30921017
Dryżałowski P, Jóźwiak S, Franckiewicz M, Strzelecka J
Neurol Neurochir Pol 2018 Nov-Dec;52(6):677-689. Epub 2018 Sep 7 doi: 10.1016/j.pjnns.2018.08.010. PMID: 30219586
Moeller F, Stephani U, Siniatchkin M
Epilepsia 2013 Jun;54(6):971-82. Epub 2013 May 3 doi: 10.1111/epi.12197. PMID: 23647021
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
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
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
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100

Prognosis

Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717
Shibata T, Kobayashi K
Acta Med Okayama 2018 Aug;72(4):325-329. doi: 10.18926/AMO/56166. PMID: 30140078
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
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Blume WT
Brain 1998 Oct;121 ( Pt 10):1937-49. doi: 10.1093/brain/121.10.1937. PMID: 9798748

Clinical prediction guides

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
Shokooh LA, Toffa DH, Pouliot P, Lesage F, Nguyen DK
Epilepsy Res 2021 Oct;176:106739. Epub 2021 Aug 14 doi: 10.1016/j.eplepsyres.2021.106739. PMID: 34455176
Mégevand P, Seeck M
Curr Opin Neurol 2018 Apr;31(2):176-183. doi: 10.1097/WCO.0000000000000545. PMID: 29432218
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Adcock JE, Panayiotopoulos CP
J Clin Neurophysiol 2012 Oct;29(5):397-407. doi: 10.1097/WNP.0b013e31826c98fe. PMID: 23027097

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
Noorlag L, van Klink NEC, Kobayashi K, Gotman J, Braun KPJ, Zijlmans M
Clin Neurophysiol 2022 May;137:46-58. Epub 2022 Jan 20 doi: 10.1016/j.clinph.2021.12.017. PMID: 35272185
Aricò M, Arigliani E, Giannotti F, Romani M
Epilepsy Behav 2020 Nov;112:107448. Epub 2020 Sep 21 doi: 10.1016/j.yebeh.2020.107448. PMID: 32916583
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

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