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Early onset epileptic encephalopathy

MedGen UID:
833947
•Concept ID:
CN230733
•
Disease or Syndrome

Professional guidelines

PubMed

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A
Ann Neurol 2017 Mar;81(3):419-429. Epub 2017 Feb 14 doi: 10.1002/ana.24883. PMID: 28133863Free PMC Article
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatr Neurol 2015 Aug;53(2):119-29. Epub 2015 May 15 doi: 10.1016/j.pediatrneurol.2015.04.001. PMID: 26073591
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24 doi: 10.1016/j.ymgme.2011.05.014. PMID: 21704546

Recent clinical studies

Etiology

Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group
Epilepsia 2024 May;65(5):1439-1450. Epub 2024 Mar 16 doi: 10.1111/epi.17939. PMID: 38491959
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.
Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW
G3 (Bethesda) 2018 Mar 28;8(4):1115-1118. doi: 10.1534/g3.118.200080. PMID: 29438995Free PMC Article
Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome.
Calhoun JD, Hawkins NA, Zachwieja NJ, Kearney JA
Epilepsia 2017 Aug;58(8):e111-e115. Epub 2017 May 28 doi: 10.1111/epi.13811. PMID: 28556246Free PMC Article
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Allen NM, Conroy J, Shahwan A, Lynch B, Correa RG, Pena SD, McCreary D, Magalhães TR, Ennis S, Lynch SA, King MD
Epilepsia 2016 Jan;57(1):e12-7. Epub 2015 Dec 9 doi: 10.1111/epi.13250. PMID: 26648591
Do mutations in SCN1B cause Dravet syndrome?
Kim YO, Dibbens L, Marini C, Suls A, Chemaly N, Mei D, McMahon JM, Iona X, Berkovic SF, De Jonghe P, Guerrini R, Nabbout R, Scheffer IE
Epilepsy Res 2013 Jan;103(1):97-100. Epub 2012 Nov 20 doi: 10.1016/j.eplepsyres.2012.10.009. PMID: 23182416

Diagnosis

ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F
Epileptic Disord 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. PMID: 32597767
Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity.
Fazzari M, Frasca A, Bifari F, Landsberger N
RNA Biol 2019 Oct;16(10):1414-1423. Epub 2019 Jun 23 doi: 10.1080/15476286.2019.1632633. PMID: 31232219Free PMC Article
Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?
Forman EB, Gorman KM, Conroy J, Arthur N, Grant C, Ennis S, Allen NM, Lynch SA, King MD
Arch Dis Child 2018 Mar;103(3):304. Epub 2017 Sep 22 doi: 10.1136/archdischild-2017-313240. PMID: 28939639
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD
J Hum Genet 2016 Aug;61(8):761-4. Epub 2016 May 19 doi: 10.1038/jhg.2016.44. PMID: 27193218
Do mutations in SCN1B cause Dravet syndrome?
Kim YO, Dibbens L, Marini C, Suls A, Chemaly N, Mei D, McMahon JM, Iona X, Berkovic SF, De Jonghe P, Guerrini R, Nabbout R, Scheffer IE
Epilepsy Res 2013 Jan;103(1):97-100. Epub 2012 Nov 20 doi: 10.1016/j.eplepsyres.2012.10.009. PMID: 23182416

Therapy

Targeted gut microbiota manipulation attenuates seizures in a model of infantile spasms syndrome.
Mu C, Nikpoor N, Tompkins TA, Choudhary A, Wang M, Marks WN, Rho JM, Scantlebury MH, Shearer J
JCI Insight 2022 Jun 22;7(12) doi: 10.1172/jci.insight.158521. PMID: 35730569Free PMC Article
Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.
Kuersten M, Tacke M, Gerstl L, Hoelz H, Stülpnagel CV, Borggraefe I
Eur J Med Genet 2020 Jan;63(1):103628. Epub 2019 Feb 14 doi: 10.1016/j.ejmg.2019.02.001. PMID: 30771507
Clinical Manifestations and Amplitude-integrated Encephalogram in Neonates with Early-onset Epileptic Encephalopathy.
Liu LL, Hou XL, Zhang DD, Sun GY, Zhou CL, Jiang Y, Tang ZZ, Zhang R, Cui Y
Chin Med J (Engl) 2017 Dec 5;130(23):2808-2815. doi: 10.4103/0366-6999.219152. PMID: 29176138Free PMC Article
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
Zhang Q, Li J, Zhao Y, Bao X, Wei L, Wang J
Clin Genet 2017 May;91(5):717-724. Epub 2017 Feb 16 doi: 10.1111/cge.12901. PMID: 27779742
Targeted treatment of migrating partial seizures of infancy with quinidine.
Bearden D, Strong A, Ehnot J, DiGiovine M, Dlugos D, Goldberg EM
Ann Neurol 2014 Sep;76(3):457-61. Epub 2014 Jul 26 doi: 10.1002/ana.24229. PMID: 25042079

Prognosis

Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group
Epilepsia 2024 May;65(5):1439-1450. Epub 2024 Mar 16 doi: 10.1111/epi.17939. PMID: 38491959
Comment: Amenable Treatable Severe Pediatric Epilepsies.
Pearl PL
Semin Pediatr Neurol 2023 Oct;47:101073. Epub 2023 Aug 6 doi: 10.1016/j.spen.2023.101073. PMID: 37919041
SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.
Clatot J, Parthasarathy S, Cohen S, McKee JL, Massey S, Somarowthu A, Goldberg EM, Helbig I
Epilepsia 2023 May;64(5):1318-1330. Epub 2022 Nov 14 doi: 10.1111/epi.17444. PMID: 36287100Free PMC Article
Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
Binaafar S, Garshasbi M, Tavasoli AR, Badv RS, Hosseiny SMM, Samanta D, Rabbani B, Mahdieh N
Dev Neurosci 2021;43(6):348-357. Epub 2021 Sep 1 doi: 10.1159/000519318. PMID: 34469883
Amenable Treatable Severe Pediatric Epilepsies.
Pearl PL
Semin Pediatr Neurol 2016 May;23(2):158-66. Epub 2016 Jun 7 doi: 10.1016/j.spen.2016.06.004. PMID: 27544473

Clinical prediction guides

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.
AbdelAleem A, Haddad N, Al-Ettribi G, Crunk A, Elsotouhy A
Neurogenetics 2023 Apr;24(2):103-112. Epub 2023 Feb 13 doi: 10.1007/s10048-023-00710-2. PMID: 36780047Free PMC Article
SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.
Clatot J, Parthasarathy S, Cohen S, McKee JL, Massey S, Somarowthu A, Goldberg EM, Helbig I
Epilepsia 2023 May;64(5):1318-1330. Epub 2022 Nov 14 doi: 10.1111/epi.17444. PMID: 36287100Free PMC Article
Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M
Mov Disord 2022 Jul;37(7):1547-1554. Epub 2022 Jun 20 doi: 10.1002/mds.29074. PMID: 35722775Free PMC Article
Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
Binaafar S, Garshasbi M, Tavasoli AR, Badv RS, Hosseiny SMM, Samanta D, Rabbani B, Mahdieh N
Dev Neurosci 2021;43(6):348-357. Epub 2021 Sep 1 doi: 10.1159/000519318. PMID: 34469883
ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F
Epileptic Disord 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. PMID: 32597767

Recent systematic reviews

Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.
Kuersten M, Tacke M, Gerstl L, Hoelz H, Stülpnagel CV, Borggraefe I
Eur J Med Genet 2020 Jan;63(1):103628. Epub 2019 Feb 14 doi: 10.1016/j.ejmg.2019.02.001. PMID: 30771507

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