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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

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
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
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL
Am J Hum Genet 2017 Oct 5;101(4):516-524. Epub 2017 Sep 21 doi: 10.1016/j.ajhg.2017.08.013. PMID: 28942967Free PMC Article

Diagnosis

Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy.
Khan AA, Reddy C, Saini AG, Vyas S
BMJ Case Rep 2020 Aug 24;13(8) doi: 10.1136/bcr-2020-235468. PMID: 32843414Free 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
PRICKLE1-related early onset epileptic encephalopathy.
Mastrangelo M, Tolve M, Martinelli M, Di Noia SP, Parrini E, Leuzzi V
Am J Med Genet A 2018 Dec;176(12):2841-2845. Epub 2018 Oct 22 doi: 10.1002/ajmg.a.40625. PMID: 30345727
Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.
Chen DY, Chowdhury S, Farnaes L, Friedman JR, Honold J, Dimmock DP, Gold OBOTRIJJ
Pediatr Neurol 2018 Sep;86:69-70. Epub 2018 Jul 10 doi: 10.1016/j.pediatrneurol.2018.06.002. PMID: 30107960Free PMC Article

Therapy

ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.
Córdoba NM, Lince-Rivera I, Gómez JLR, Rubboli G, De la Rosa SO
Epileptic Disord 2024 Jun;26(3):332-340. Epub 2024 Mar 21 doi: 10.1002/epd2.20220. PMID: 38512072
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
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
De Novo Heterogeneous Mutations in SCN2A and GRIN2A Genes and Seizures With Ictal Vocalizations.
Singh D, Lau M, Ayers T, Singh Y, Akingbola O, Barbiero L, Nelson S
Clin Pediatr (Phila) 2016 Aug;55(9):867-70. Epub 2015 Aug 16 doi: 10.1177/0009922815601060. PMID: 26283219

Prognosis

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
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R
Eur J Hum Genet 2018 Oct;26(10):1502-1511. Epub 2018 Jun 13 doi: 10.1038/s41431-018-0179-2. PMID: 29899372Free PMC Article
Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy.
Turkdogan D, Usluer S, Akalin F, Agyuz U, Aslan ES
Seizure 2017 Aug;50:171-172. Epub 2017 Jun 28 doi: 10.1016/j.seizure.2017.06.019. PMID: 28697420

Clinical prediction guides

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
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R
Eur J Hum Genet 2018 Oct;26(10):1502-1511. Epub 2018 Jun 13 doi: 10.1038/s41431-018-0179-2. PMID: 29899372Free 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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