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Epilepsy, early-onset, with or without developmental delay(EPEO2)

MedGen UID:
1845576
Concept ID:
C5882670
Disease or Syndrome
Synonyms: EPEO2; EPILEPSY, EARLY-ONSET, 2, WITH OR WITHOUT DEVELOPMENTAL DELAY
 
Gene (location): SETD1A (16p11.2)
 
Monarch Initiative: MONDO:0030005
OMIM®: 618832

Definition

Early-onset epilepsy-2 with or without developmental delay (EPEO2) is an autosomal dominant neurologic disorder characterized by the onset of generalized tonic-clonic seizures in the first days, months, or years of life. The severity is highly variable: some patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging (summary by Yu et al., 2019). For a discussion of genetic heterogeneity of EPEO, see 617290. [from OMIM]

Clinical features

From HPO
Hydrocele testis
MedGen UID:
318568
Concept ID:
C1720771
Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
Patent foramen ovale
MedGen UID:
8891
Concept ID:
C0016522
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.

Professional guidelines

PubMed

Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S
Lancet Neurol 2022 Jun;21(6):563-576. Epub 2022 Apr 25 doi: 10.1016/S1474-4422(22)00035-7. PMID: 35483386Free PMC Article
Faraone SV, Banaschewski T, Coghill D, Zheng Y, Biederman J, Bellgrove MA, Newcorn JH, Gignac M, Al Saud NM, Manor I, Rohde LA, Yang L, Cortese S, Almagor D, Stein MA, Albatti TH, Aljoudi HF, Alqahtani MMJ, Asherson P, Atwoli L, Bölte S, Buitelaar JK, Crunelle CL, Daley D, Dalsgaard S, Döpfner M, Espinet S, Fitzgerald M, Franke B, Gerlach M, Haavik J, Hartman CA, Hartung CM, Hinshaw SP, Hoekstra PJ, Hollis C, Kollins SH, Sandra Kooij JJ, Kuntsi J, Larsson H, Li T, Liu J, Merzon E, Mattingly G, Mattos P, McCarthy S, Mikami AY, Molina BSG, Nigg JT, Purper-Ouakil D, Omigbodun OO, Polanczyk GV, Pollak Y, Poulton AS, Rajkumar RP, Reding A, Reif A, Rubia K, Rucklidge J, Romanos M, Ramos-Quiroga JA, Schellekens A, Scheres A, Schoeman R, Schweitzer JB, Shah H, Solanto MV, Sonuga-Barke E, Soutullo C, Steinhausen HC, Swanson JM, Thapar A, Tripp G, van de Glind G, van den Brink W, Van der Oord S, Venter A, Vitiello B, Walitza S, Wang Y
Neurosci Biobehav Rev 2021 Sep;128:789-818. Epub 2021 Feb 4 doi: 10.1016/j.neubiorev.2021.01.022. PMID: 33549739Free PMC Article
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Curated

UK NICE Guideline NG217, Epilepsies in children, young people and adults, 2022

Recent clinical studies

Etiology

Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Phan J, Ramos M, Soares T, Parmar MS
Oxid Med Cell Longev 2022;2022:7692215. Epub 2022 Oct 26 doi: 10.1155/2022/7692215. PMID: 36338344Free PMC Article
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G
Brain 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. PMID: 34114611
Hebbar M, Mefford HC
F1000Res 2020;9 Epub 2020 Mar 12 doi: 10.12688/f1000research.21366.1. PMID: 32201576Free PMC Article
Wilson MP, Plecko B, Mills PB, Clayton PT
J Inherit Metab Dis 2019 Jul;42(4):629-646. Epub 2019 Mar 20 doi: 10.1002/jimd.12060. PMID: 30671974

Diagnosis

Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S
Lancet Neurol 2022 Jun;21(6):563-576. Epub 2022 Apr 25 doi: 10.1016/S1474-4422(22)00035-7. PMID: 35483386Free PMC Article
Talwar D, Hammer MF
Pediatr Neurol 2021 Sep;122:76-83. Epub 2021 Aug 3 doi: 10.1016/j.pediatrneurol.2021.06.011. PMID: 34353676
Pisani F, Spagnoli C, Falsaperla R, Nagarajan L, Ramantani G
Seizure 2021 Feb;85:48-56. Epub 2021 Jan 4 doi: 10.1016/j.seizure.2020.12.023. PMID: 33418166
Hebbar M, Mefford HC
F1000Res 2020;9 Epub 2020 Mar 12 doi: 10.12688/f1000research.21366.1. PMID: 32201576Free PMC Article
Scheffer IE, Nabbout R
Epilepsia 2019 Dec;60 Suppl 3:S17-S24. doi: 10.1111/epi.16386. PMID: 31904117

Therapy

Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Golub V, Reddy DS
Adv Exp Med Biol 2021;1264:93-110. doi: 10.1007/978-3-030-57369-0_7. PMID: 33332006
Wilson MP, Plecko B, Mills PB, Clayton PT
J Inherit Metab Dis 2019 Jul;42(4):629-646. Epub 2019 Mar 20 doi: 10.1002/jimd.12060. PMID: 30671974
Devinsky O, Patel AD, Cross JH, Villanueva V, Wirrell EC, Privitera M, Greenwood SM, Roberts C, Checketts D, VanLandingham KE, Zuberi SM; GWPCARE3 Study Group
N Engl J Med 2018 May 17;378(20):1888-1897. doi: 10.1056/NEJMoa1714631. PMID: 29768152
Law J, Garrett Z, Nye C
Cochrane Database Syst Rev 2003;2003(3):CD004110. doi: 10.1002/14651858.CD004110. PMID: 12918003Free PMC Article

Prognosis

Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Phan J, Ramos M, Soares T, Parmar MS
Oxid Med Cell Longev 2022;2022:7692215. Epub 2022 Oct 26 doi: 10.1155/2022/7692215. PMID: 36338344Free PMC Article
Talwar D, Hammer MF
Pediatr Neurol 2021 Sep;122:76-83. Epub 2021 Aug 3 doi: 10.1016/j.pediatrneurol.2021.06.011. PMID: 34353676
Pisani F, Spagnoli C, Falsaperla R, Nagarajan L, Ramantani G
Seizure 2021 Feb;85:48-56. Epub 2021 Jan 4 doi: 10.1016/j.seizure.2020.12.023. PMID: 33418166
Hebbar M, Mefford HC
F1000Res 2020;9 Epub 2020 Mar 12 doi: 10.12688/f1000research.21366.1. PMID: 32201576Free PMC Article

Clinical prediction guides

Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C
Genet Med 2023 Aug;25(8):100885. Epub 2023 May 8 doi: 10.1016/j.gim.2023.100885. PMID: 37165955
Talwar D, Hammer MF
Pediatr Neurol 2021 Sep;122:76-83. Epub 2021 Aug 3 doi: 10.1016/j.pediatrneurol.2021.06.011. PMID: 34353676
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G
Brain 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. PMID: 34114611
Stefanski A, Calle-López Y, Leu C, Pérez-Palma E, Pestana-Knight E, Lal D
Epilepsia 2021 Jan;62(1):143-151. Epub 2020 Nov 17 doi: 10.1111/epi.16755. PMID: 33200402Free PMC Article
Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D
Epilepsia 2020 Mar;61(3):387-399. Epub 2020 Feb 23 doi: 10.1111/epi.16438. PMID: 32090326

Recent systematic reviews

Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
Orphanet J Rare Dis 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. PMID: 33985586Free PMC Article
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Ruzbarsky JJ, Scher D, Dodwell E
Curr Opin Pediatr 2016 Feb;28(1):40-6. doi: 10.1097/MOP.0000000000000302. PMID: 26709689
Moeschler JB, Shevell M; Committee on Genetics
Pediatrics 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. PMID: 25157020Free PMC Article
Law J, Garrett Z, Nye C
Cochrane Database Syst Rev 2003;2003(3):CD004110. doi: 10.1002/14651858.CD004110. PMID: 12918003Free PMC Article

Supplemental Content

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    Curated

    • NICE, 2022
      UK NICE Guideline NG217, Epilepsies in children, young people and adults, 2022

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