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Benign infantile familial convulsions
F Vigevano1, L Fusco, M Di Capua
1Section of Neurophysiology, Bambino Gesu Children's Hospital, Rome, Italy.
Insights
This study identified a benign, familial epilepsy syndrome in infants presenting with clusters of partial-onset seizures. Genetic predisposition is suggested by a family history of similar early-onset, benign convulsions.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Epileptology
Background:
- Infantile epilepsy presents diagnostic challenges.
- Familial epilepsy syndromes require further characterization.
- Understanding benign early-onset seizures is crucial for prognosis.
Purpose of the Study:
- To describe a specific epilepsy syndrome in infants.
- To investigate the clinical and EEG characteristics of these seizures.
- To explore potential genetic factors.
Main Methods:
- Case series of five infants with early-onset convulsions.
- Clinical seizure description and classification.
- Electroencephalogram (EEG) analysis (interictal and ictal).
- Family history assessment for genetic predisposition.
Main Results:
- Seizures occurred between 4-6 months, in clusters, and were controlled with phenobarbital or valproate.
- Seizures were partial with secondary generalization, featuring head/eye deviation, hypertonia, and limb jerks.
- Normal interictal EEG, but ictal EEG showed central-occipital onset.
- Normal laboratory, radiological, and neurological findings.
- Family history of similar benign convulsions in paternal relatives suggested genetic inheritance.
Conclusions:
- A benign familial epilepsy syndrome in infancy is described.
- The syndrome is characterized by specific seizure semiology and EEG findings.
- A genetic predisposition, likely inherited paternally, is suggested.
Abstract:
Five infants, three girls and two boys, first had convulsions between the ages of 4 and 6 months. Although the aetiology of the attacks was unknown, all the infants had a family history of similar convulsions occurring at the same age and having a benign outcome. The attacks, which always occurred in a cluster, were promptly controlled, in four cases with phenobarbital and in one case with valproate. Seizures were partial with secondary generalization and were characterized by head and eye deviation (not always the same side in each attack) diffuse hypertonia and then bilateral limb jerks. The interictal EEG was normal. The ictal EEG showed diffuse discharge with onset in the central-occipital region. Laboratory, radiological and neurological findings were normal. A history in at least one paternal relative (the father in four cases) of similar seizures, occurring at the same age suggested a genetic predisposition. No seizures or EEG anomalies were observed during the follow up.