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EEG with generalized epileptiform discharges

MedGen UID:
869058
Concept ID:
C4023476
Finding
Synonym: EEG with generalised epileptiform discharges
 
HPO: HP:0011198

Definition

EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. [from HPO]

Conditions with this feature

ALG11-congenital disorder of glycosylation
MedGen UID:
462263
Concept ID:
C3150913
Disease or Syndrome
A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).
Progressive myoclonic epilepsy type 7
MedGen UID:
863857
Concept ID:
C4015420
Disease or Syndrome
Progressive myoclonic epilepsy-7 (EPM7) is a neurologic disorder characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life. Most patients become wheelchair-bound; some patients may have cognitive decline (summary by Muona et al., 2015). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
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.
Developmental and epileptic encephalopathy, 63
MedGen UID:
1646846
Concept ID:
C4693810
Disease or Syndrome
Developmental and epileptic encephalopathy-63 (DEE63) is an autosomal recessive neurologic disorder characterized by early-onset refractory infantile spasms and myoclonic seizures in the first months to years of life. Affected individuals have severe to profound developmental delay, often with hypotonia and inability to sit or speak (summary by Redler et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350.
Neurodevelopmental disorder with seizures and gingival overgrowth
MedGen UID:
1784299
Concept ID:
C5543395
Disease or Syndrome
Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) is an autosomal recessive disorder with a highly variable phenotype. Some patients have early normal development with developmental regression apparent in the first years of life, whereas others present with hypotonia or delayed development. Most patients develop significant gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Other more variable features may include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, and seizures. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles. There is a wide phenotypic spectrum with features that may develop with age; the disorder appears to comprise a continuum of evolving neurologic manifestations (Harms et al., 2020).
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
MedGen UID:
1808159
Concept ID:
C5676961
Disease or Syndrome
Autosomal recessive intellectual developmental disorder-75 with neuropsychiatric features and variant lissencephaly (MRT75) is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development. Most affected individuals have behavioral abnormalities, including aggression and ADHD; a few have psychiatric manifestations, including psychosis. More variable additional features include well-controlled seizures and dysmorphic facial features. Brain imaging often shows frontal predominant pachygyria or other gyri/sulci abnormalities, consistent with a variant of lissencephaly and a malformation of cortical development (MCD) (summary by Zaki et al., 2021).

Professional guidelines

PubMed

Kasteleijn-Nolst Trenité DG, Schmitz B, Janz D, Delgado-Escueta AV, Thomas P, Hirsch E, Lerche H, Camfield C, Baykan B, Feucht M, Martínez-Juárez IE, Duron RM, Medina MT, Rubboli G, Jerney J, Hermann B, Yacubian E, Koutroumanidis M, Stephani U, Salas-Puig J, Reed RC, Woermann F, Wandschneider B, Bureau M, Gambardella A, Koepp MJ, Gelisse P, Gurses C, Crespel A, Nguyen-Michel VH, Ferlazzo E, Grisar T, Helbig I, Koeleman BP, Striano P, Trimble M, Buono R, Cossette P, Represa A, Dravet C, Serafini A, Berglund IS, Sisodiya SM, Yamakawa K, Genton P
Epilepsy Behav 2013 Jul;28 Suppl 1:S87-90. doi: 10.1016/j.yebeh.2012.11.051. PMID: 23756490

Recent clinical studies

Etiology

Chen HY, Elmer J, Zafar SF, Ghanta M, Moura Junior V, Rosenthal ES, Gilmore EJ, Hirsch LJ, Zaveri HP, Sheth KN, Petersen NH, Westover MB, Kim JA
Neurology 2022 Feb 1;98(5):e459-e469. Epub 2021 Nov 29 doi: 10.1212/WNL.0000000000013126. PMID: 34845057Free PMC Article
Husari KS, Ritzl EK
J Clin Neurophysiol 2022 May 1;39(4):289-294. Epub 2020 Oct 7 doi: 10.1097/WNP.0000000000000779. PMID: 33038092
Nickels K, Kossoff EH, Eschbach K, Joshi C
Epilepsia 2021 Jan;62(1):120-127. Epub 2020 Nov 14 doi: 10.1111/epi.16752. PMID: 33190223
Bauerschmidt A, Rubinos C, Claassen J
J Clin Neurophysiol 2018 Jul;35(4):309-313. doi: 10.1097/WNP.0000000000000464. PMID: 29979289
Tatum WO
Neurology 2013 Jan 1;80(1 Suppl 1):S12-25. doi: 10.1212/WNL.0b013e3182797325. PMID: 23267041

Diagnosis

Chen HY, Elmer J, Zafar SF, Ghanta M, Moura Junior V, Rosenthal ES, Gilmore EJ, Hirsch LJ, Zaveri HP, Sheth KN, Petersen NH, Westover MB, Kim JA
Neurology 2022 Feb 1;98(5):e459-e469. Epub 2021 Nov 29 doi: 10.1212/WNL.0000000000013126. PMID: 34845057Free PMC Article
Baumgartner C, Pirker S
Handb Clin Neurol 2019;160:171-183. doi: 10.1016/B978-0-444-64032-1.00011-4. PMID: 31277846
Trinka E, Leitinger M
Epilepsy Behav 2015 Aug;49:203-22. Epub 2015 Jul 4 doi: 10.1016/j.yebeh.2015.05.005. PMID: 26148985
Tatum WO
Neurology 2013 Jan 1;80(1 Suppl 1):S12-25. doi: 10.1212/WNL.0b013e3182797325. PMID: 23267041
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

Therapy

Husari KS, Ritzl EK
J Clin Neurophysiol 2022 May 1;39(4):289-294. Epub 2020 Oct 7 doi: 10.1097/WNP.0000000000000779. PMID: 33038092
Nickels K, Kossoff EH, Eschbach K, Joshi C
Epilepsia 2021 Jan;62(1):120-127. Epub 2020 Nov 14 doi: 10.1111/epi.16752. PMID: 33190223
Bauerschmidt A, Rubinos C, Claassen J
J Clin Neurophysiol 2018 Jul;35(4):309-313. doi: 10.1097/WNP.0000000000000464. PMID: 29979289
Yong T, Chayasirisobhon S, Yoshina JS, Tin SN, Tehrani K, Skinner SE, Markus E, Spurgeon BD, Gurbani S
Clin EEG Neurosci 2008 Jan;39(1):28-32. doi: 10.1177/155005940803900110. PMID: 18318416
Bazil CW
Curr Neurol Neurosci Rep 2003 Mar;3(2):167-72. doi: 10.1007/s11910-003-0070-5. PMID: 12583847

Prognosis

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
Chen HY, Elmer J, Zafar SF, Ghanta M, Moura Junior V, Rosenthal ES, Gilmore EJ, Hirsch LJ, Zaveri HP, Sheth KN, Petersen NH, Westover MB, Kim JA
Neurology 2022 Feb 1;98(5):e459-e469. Epub 2021 Nov 29 doi: 10.1212/WNL.0000000000013126. PMID: 34845057Free PMC Article
Zawar I, Knight EP
Pediatr Neurol 2021 Aug;121:75-80. Epub 2020 Dec 1 doi: 10.1016/j.pediatrneurol.2020.11.018. PMID: 34167046
Nickels K, Kossoff EH, Eschbach K, Joshi C
Epilepsia 2021 Jan;62(1):120-127. Epub 2020 Nov 14 doi: 10.1111/epi.16752. PMID: 33190223
Brenner RP
Epilepsia 2002;43 Suppl 3:103-13. doi: 10.1046/j.1528-1157.43.s.3.9.x. PMID: 12060012

Clinical prediction guides

Chen HY, Elmer J, Zafar SF, Ghanta M, Moura Junior V, Rosenthal ES, Gilmore EJ, Hirsch LJ, Zaveri HP, Sheth KN, Petersen NH, Westover MB, Kim JA
Neurology 2022 Feb 1;98(5):e459-e469. Epub 2021 Nov 29 doi: 10.1212/WNL.0000000000013126. PMID: 34845057Free PMC Article
Husari KS, Ritzl EK
J Clin Neurophysiol 2022 May 1;39(4):289-294. Epub 2020 Oct 7 doi: 10.1097/WNP.0000000000000779. PMID: 33038092
Zawar I, Knight EP
Pediatr Neurol 2021 Aug;121:75-80. Epub 2020 Dec 1 doi: 10.1016/j.pediatrneurol.2020.11.018. PMID: 34167046
Khazipov R
Cold Spring Harb Perspect Med 2016 Jan 8;6(2):a022764. doi: 10.1101/cshperspect.a022764. PMID: 26747834Free PMC Article
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

Recent systematic reviews

Fazlollahi A, Zahmatyar M, Shamekh A, Motamedi A, Seyedi F, Seyedmirzaei H, Mousavi SE, Nejadghaderi SA, Sullman MJM, Kolahi AA, Arshi S, Safiri S
Rev Med Virol 2023 Nov;33(6):e2484. Epub 2023 Oct 9 doi: 10.1002/rmv.2484. PMID: 37807809
Kubota T, Gajera PK, Kuroda N
Epilepsy Behav 2021 Feb;115:107682. Epub 2020 Dec 4 doi: 10.1016/j.yebeh.2020.107682. PMID: 33342709Free PMC Article
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
Epilepsy Behav 2020 Nov;112:107462. Epub 2020 Sep 22 doi: 10.1016/j.yebeh.2020.107462. PMID: 32971385
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

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