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Infantile epileptic dyskinetic encephalopathy

MedGen UID:
1637882
•Concept ID:
C4552072
•
Disease or Syndrome
Synonyms: Early Infantile Epileptic Encephalopathy; Infantile Epileptic-Dyskinetic Encephalopathy; Ohtahara Syndrome; West Syndrome, X-Linked; X-linked infantile spasm syndrome; X-linked infantile spasms; X-Linked West Syndrome
SNOMED CT: Infantile epileptic dyskinetic encephalopathy (771223000)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018226
OMIM®: 308350
Orphanet: ORPHA364063

Definition

A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. [from SNOMEDCT_US]

Professional guidelines

PubMed

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Mastrangelo M, Leuzzi V
Pediatr Neurol 2012 Jan;46(1):24-31. doi: 10.1016/j.pediatrneurol.2011.11.003. PMID: 22196487

Recent clinical studies

Etiology

Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.
Chouery E, Mehawej C, Sabbagh S, Bleik J, Megarbane A
Eur J Neurol 2022 Aug;29(8):2486-2492. Epub 2022 Jun 9 doi: 10.1111/ene.15424. PMID: 35638367
The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Epileptic Disord 2020 Oct 1;22(5):563-570. doi: 10.1684/epd.2020.1199. PMID: 33000761
Causes of mortality in early infantile epileptic encephalopathy: A systematic review.
Radaelli G, de Souza Santos F, Borelli WV, Pisani L, Nunes ML, Scorza FA, da Costa JC
Epilepsy Behav 2018 Aug;85:32-36. Epub 2018 Jun 13 doi: 10.1016/j.yebeh.2018.05.015. PMID: 29906699
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM
Ann Neurol 2018 Apr;83(4):703-717. Epub 2018 Mar 30 doi: 10.1002/ana.25188. PMID: 29466837Free PMC Article
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.
Shbarou R, Mikati MA
Semin Pediatr Neurol 2016 May;23(2):134-42. Epub 2016 Jun 2 doi: 10.1016/j.spen.2016.06.002. PMID: 27544470

Diagnosis

Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.
Kim SH, Seo J, Kwon SS, Teng LY, Won D, Shin S, Lee JS, Lee ST, Choi JR, Kang HC
Epilepsia 2024 Mar;65(3):766-778. Epub 2023 Dec 22 doi: 10.1111/epi.17857. PMID: 38073125
SCN1B-linked early infantile developmental and epileptic encephalopathy.
Aeby A, Sculier C, Bouza AA, Askar B, Lederer D, Schoonjans AS, Vander Ghinst M, Ceulemans B, Offord J, Lopez-Santiago LF, Isom LL
Ann Clin Transl Neurol 2019 Dec;6(12):2354-2367. Epub 2019 Nov 11 doi: 10.1002/acn3.50921. PMID: 31709768Free PMC Article
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Punetha J, Karaca E, Gezdirici A, Lamont RE, Pehlivan D, Marafi D, Appendino JP, Hunter JV, Akdemir ZC, Fatih JM, Jhangiani SN, Gibbs RA, Innes AM, Posey JE, Lupski JR
Ann Clin Transl Neurol 2019 Aug;6(8):1395-1406. Epub 2019 Jul 11 doi: 10.1002/acn3.50824. PMID: 31402629Free PMC Article
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N
Nat Commun 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. PMID: 31175295Free PMC Article
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Al Hashem A, Al Tala S, Maddirevula S, Alkuraya FS, Tabarki B, Alfadhel M
Seizure 2019 Jul;69:154-172. Epub 2019 Apr 27 doi: 10.1016/j.seizure.2019.04.018. PMID: 31054490

Therapy

The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS
Epilepsia 2021 Feb;62(2):358-370. Epub 2021 Jan 21 doi: 10.1111/epi.16810. PMID: 33475165
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR
Epilepsia 2021 Feb;62(2):325-334. Epub 2021 Jan 7 doi: 10.1111/epi.16761. PMID: 33410528Free PMC Article
The patterns of response of 11 regimens for infantile spasms.
Mao L, Kessi M, Peng P, He F, Zhang C, Yang L, Wu L, Yin F, Peng J
Sci Rep 2020 Jul 13;10(1):11509. doi: 10.1038/s41598-020-68403-6. PMID: 32661290Free PMC Article
Causes of mortality in early infantile epileptic encephalopathy: A systematic review.
Radaelli G, de Souza Santos F, Borelli WV, Pisani L, Nunes ML, Scorza FA, da Costa JC
Epilepsy Behav 2018 Aug;85:32-36. Epub 2018 Jun 13 doi: 10.1016/j.yebeh.2018.05.015. PMID: 29906699
Current and Emerging Therapies of Severe Epileptic Encephalopathies.
Hani AJ, Mikati MA
Semin Pediatr Neurol 2016 May;23(2):180-6. Epub 2016 Jun 3 doi: 10.1016/j.spen.2016.06.001. PMID: 27544475

Prognosis

The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS
Epilepsia 2021 Feb;62(2):358-370. Epub 2021 Jan 21 doi: 10.1111/epi.16810. PMID: 33475165
The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Epileptic Disord 2020 Oct 1;22(5):563-570. doi: 10.1684/epd.2020.1199. PMID: 33000761
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Al Hashem A, Al Tala S, Maddirevula S, Alkuraya FS, Tabarki B, Alfadhel M
Seizure 2019 Jul;69:154-172. Epub 2019 Apr 27 doi: 10.1016/j.seizure.2019.04.018. PMID: 31054490
Causes of mortality in early infantile epileptic encephalopathy: A systematic review.
Radaelli G, de Souza Santos F, Borelli WV, Pisani L, Nunes ML, Scorza FA, da Costa JC
Epilepsy Behav 2018 Aug;85:32-36. Epub 2018 Jun 13 doi: 10.1016/j.yebeh.2018.05.015. PMID: 29906699
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.
Shbarou R, Mikati MA
Semin Pediatr Neurol 2016 May;23(2):134-42. Epub 2016 Jun 2 doi: 10.1016/j.spen.2016.06.002. PMID: 27544470

Clinical prediction guides

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.
Scala M, Efthymiou S, Sultan T, De Waele J, Panciroli M, Salpietro V, Maroofian R, Striano P, Van Petegem F, Houlden H, Bosmans F
Epilepsia 2021 Jun;62(6):e82-e87. Epub 2021 Apr 26 doi: 10.1111/epi.16913. PMID: 33901312Free PMC Article
The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Epileptic Disord 2020 Oct 1;22(5):563-570. doi: 10.1684/epd.2020.1199. PMID: 33000761
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N
Nat Commun 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. PMID: 31175295Free PMC Article
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM
Ann Neurol 2018 Apr;83(4):703-717. Epub 2018 Mar 30 doi: 10.1002/ana.25188. PMID: 29466837Free PMC Article
Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.
Jacob J
Epilepsia 2016 Feb;57(2):182-93. Epub 2015 Dec 19 doi: 10.1111/epi.13272. PMID: 26682992

Recent systematic reviews

The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Al Hashem A, Al Tala S, Maddirevula S, Alkuraya FS, Tabarki B, Alfadhel M
Seizure 2019 Jul;69:154-172. Epub 2019 Apr 27 doi: 10.1016/j.seizure.2019.04.018. PMID: 31054490
Causes of mortality in early infantile epileptic encephalopathy: A systematic review.
Radaelli G, de Souza Santos F, Borelli WV, Pisani L, Nunes ML, Scorza FA, da Costa JC
Epilepsy Behav 2018 Aug;85:32-36. Epub 2018 Jun 13 doi: 10.1016/j.yebeh.2018.05.015. PMID: 29906699

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