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Early onset absence seizures

MedGen UID:
869092
•Concept ID:
C4023510
•
Disease or Syndrome
Synonym: Early onset petit mal seizures
 
HPO: HP:0011152

Definition

Typical absence seizures starting before the age of 4 years. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEarly onset absence seizures

Professional guidelines

PubMed

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P
Eur J Paediatr Neurol 2021 Jul;33:75-85. Epub 2021 May 26 doi: 10.1016/j.ejpn.2021.05.010. PMID: 34102571

Recent clinical studies

Etiology

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
Jiménez Legido M, Cortés Ledesma C, Bernardino Cuesta B, López Marín L, Cantarín Extremera V, Pérez-Cerdá C, Pérez González B, López Martín E, González Gutiérrez-Solana L
Neurologia (Engl Ed) 2022 Mar;37(2):91-100. Epub 2021 Feb 8 doi: 10.1016/j.nrleng.2018.10.023. PMID: 35279228
Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.
Thouin A, Crompton DE
Pract Neurol 2016 Feb;16(1):50-2. Epub 2015 Sep 3 doi: 10.1136/practneurol-2015-001194. PMID: 26336901
Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.
Caraballo RH, Darra F, Fontana E, Garcia R, Monese E, Dalla Bernardina B
Epilepsia 2011 Feb;52(2):393-400. Epub 2011 Jan 26 doi: 10.1111/j.1528-1167.2010.02926.x. PMID: 21269284

Diagnosis

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
Jiménez Legido M, Cortés Ledesma C, Bernardino Cuesta B, López Marín L, Cantarín Extremera V, Pérez-Cerdá C, Pérez González B, López Martín E, González Gutiérrez-Solana L
Neurologia (Engl Ed) 2022 Mar;37(2):91-100. Epub 2021 Feb 8 doi: 10.1016/j.nrleng.2018.10.023. PMID: 35279228
Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.
Thouin A, Crompton DE
Pract Neurol 2016 Feb;16(1):50-2. Epub 2015 Sep 3 doi: 10.1136/practneurol-2015-001194. PMID: 26336901
Early-onset absence epilepsy: clinical and electroencephalographic features in three children.
Fernández-Torre JL, Herranz JL, Martínez-Martínez M, Maestro I, Arteaga R, Barrasa J
Brain Dev 2006 Jun;28(5):311-4. Epub 2006 Jan 10 doi: 10.1016/j.braindev.2005.10.009. PMID: 16376505

Therapy

Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication.
Rezazadeh A, Borlot F, Faghfoury H, Andrade DM
Seizure 2017 May;48:57-61. Epub 2017 Apr 11 doi: 10.1016/j.seizure.2017.04.004. PMID: 28419948
Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.
Caraballo RH, Darra F, Fontana E, Garcia R, Monese E, Dalla Bernardina B
Epilepsia 2011 Feb;52(2):393-400. Epub 2011 Jan 26 doi: 10.1111/j.1528-1167.2010.02926.x. PMID: 21269284

Prognosis

Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.
Caraballo RH, Darra F, Fontana E, Garcia R, Monese E, Dalla Bernardina B
Epilepsia 2011 Feb;52(2):393-400. Epub 2011 Jan 26 doi: 10.1111/j.1528-1167.2010.02926.x. PMID: 21269284

Clinical prediction guides

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
Jiménez Legido M, Cortés Ledesma C, Bernardino Cuesta B, López Marín L, Cantarín Extremera V, Pérez-Cerdá C, Pérez González B, López Martín E, González Gutiérrez-Solana L
Neurologia (Engl Ed) 2022 Mar;37(2):91-100. Epub 2021 Feb 8 doi: 10.1016/j.nrleng.2018.10.023. PMID: 35279228

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