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Self-limited familial infantile epilepsy

MedGen UID:
1001953
Concept ID:
CN322666
Disease or Syndrome
Synonym: Self-limited familial and non-familial infantile seizures
 
Monarch Initiative: MONDO:0100024

Definition

This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life. [from MONDO]

Professional guidelines

PubMed

Conecker G, Xia MY, Hecker J, Achkar C, Cukiert C, Devries S, Donner E, Fitzgerald MP, Gardella E, Hammer M, Hegde A, Hu C, Kato M, Luo T, Schreiber JM, Wang Y, Kooistra T, Oudin M, Waldrop K, Youngquist JT, Zhang D, Wirrell E, Perry MS
Epilepsia 2024 Aug;65(8):2322-2338. Epub 2024 May 27 doi: 10.1111/epi.17992. PMID: 38802994
Poudel P, Kafle SP, Pokharel R
Epilepsia Open 2021 Mar;6(1):206-215. Epub 2021 Feb 8 doi: 10.1002/epi4.12470. PMID: 33681663Free PMC Article

Recent clinical studies

Etiology

Zhao Q, Hu Y, Liu Z, Fang S, Zheng F, Wang X, Li F, Li X, Lin Z
Seizure 2021 Oct;91:360-368. Epub 2021 Jul 13 doi: 10.1016/j.seizure.2021.07.013. PMID: 34298454
van Roest A, Van de Vel A, Lederer D, Ceulemans B
Eur J Paediatr Neurol 2020 Jan;24:148-153. Epub 2019 Dec 13 doi: 10.1016/j.ejpn.2019.12.003. PMID: 31901402
Bozaykut A, Aksoy HU, Sezer RG, Polat M
J Child Neurol 2015 Mar;30(3):314-9. Epub 2014 Jun 22 doi: 10.1177/0883073814538502. PMID: 24958006

Diagnosis

Conecker G, Xia MY, Hecker J, Achkar C, Cukiert C, Devries S, Donner E, Fitzgerald MP, Gardella E, Hammer M, Hegde A, Hu C, Kato M, Luo T, Schreiber JM, Wang Y, Kooistra T, Oudin M, Waldrop K, Youngquist JT, Zhang D, Wirrell E, Perry MS
Epilepsia 2024 Aug;65(8):2322-2338. Epub 2024 May 27 doi: 10.1111/epi.17992. PMID: 38802994
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, Babai AM, Bakhit YH, Nürnberg P, Ibrahim ME, Salih MA, Schubert J, Elsayed LEO, Lerche H
Eur J Hum Genet 2024 Oct;32(10):1338-1342. Epub 2024 Feb 5 doi: 10.1038/s41431-024-01541-x. PMID: 38316952Free PMC Article
Fearn N, Macdonald-Laurs E, Moylan L, Howell KB
Epileptic Disord 2023 Aug;25(4):510-518. Epub 2023 May 17 doi: 10.1002/epd2.20072. PMID: 37170076
Zhao Q, Hu Y, Liu Z, Fang S, Zheng F, Wang X, Li F, Li X, Lin Z
Seizure 2021 Oct;91:360-368. Epub 2021 Jul 13 doi: 10.1016/j.seizure.2021.07.013. PMID: 34298454
Bozaykut A, Aksoy HU, Sezer RG, Polat M
J Child Neurol 2015 Mar;30(3):314-9. Epub 2014 Jun 22 doi: 10.1177/0883073814538502. PMID: 24958006

Therapy

Yu X, Che F, Zhang X, Yang L, Zhu L, Xu N, Qiu S, Li Y
Epilepsia Open 2024 Oct;9(5):1658-1669. Epub 2024 Aug 14 doi: 10.1002/epi4.13028. PMID: 39141400Free PMC Article
Conecker G, Xia MY, Hecker J, Achkar C, Cukiert C, Devries S, Donner E, Fitzgerald MP, Gardella E, Hammer M, Hegde A, Hu C, Kato M, Luo T, Schreiber JM, Wang Y, Kooistra T, Oudin M, Waldrop K, Youngquist JT, Zhang D, Wirrell E, Perry MS
Epilepsia 2024 Aug;65(8):2322-2338. Epub 2024 May 27 doi: 10.1111/epi.17992. PMID: 38802994
Zhao Q, Hu Y, Liu Z, Fang S, Zheng F, Wang X, Li F, Li X, Lin Z
Seizure 2021 Oct;91:360-368. Epub 2021 Jul 13 doi: 10.1016/j.seizure.2021.07.013. PMID: 34298454

Prognosis

Conecker G, Xia MY, Hecker J, Achkar C, Cukiert C, Devries S, Donner E, Fitzgerald MP, Gardella E, Hammer M, Hegde A, Hu C, Kato M, Luo T, Schreiber JM, Wang Y, Kooistra T, Oudin M, Waldrop K, Youngquist JT, Zhang D, Wirrell E, Perry MS
Epilepsia 2024 Aug;65(8):2322-2338. Epub 2024 May 27 doi: 10.1111/epi.17992. PMID: 38802994
Bozaykut A, Aksoy HU, Sezer RG, Polat M
J Child Neurol 2015 Mar;30(3):314-9. Epub 2014 Jun 22 doi: 10.1177/0883073814538502. PMID: 24958006

Clinical prediction guides

Poudel P, Kafle SP, Pokharel R
Epilepsia Open 2021 Mar;6(1):206-215. Epub 2021 Feb 8 doi: 10.1002/epi4.12470. PMID: 33681663Free PMC Article
Bozaykut A, Aksoy HU, Sezer RG, Polat M
J Child Neurol 2015 Mar;30(3):314-9. Epub 2014 Jun 22 doi: 10.1177/0883073814538502. PMID: 24958006

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