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[Familial benign partial epilepsy of early infancy]
B Carrera1, S Berrade, M E Yoldi
1Servicio de Neurofisiología Clinica, Hospital Virgen del Camino, Pamplona, España.
Insights
Benign familial idiopathic partial epilepsy presents in infancy with partial seizures and resolves spontaneously. This epilepsy syndrome shows autosomal dominant inheritance and is linked to chromosome 19.
Area of Science:
- Neurology
- Genetics
Background:
- Benign partial epilepsy of early infancy is a rare epilepsy syndrome.
- It is characterized by onset in the first year of life, frequent partial seizures, and spontaneous remission.
Observation:
- Two patients presented with partial onset, secondarily generalized convulsive crises.
- Both had a family history of similar neurological conditions.
- Patients remained well with normal development and neurological findings five years later.
Findings:
- Clinical and EEG characteristics suggested benign partial epilepsy of early infancy.
- The syndrome exhibits autosomal dominant inheritance.
- A gene associated with this condition has been localized to chromosome 19.
Implications:
- This syndrome warrants inclusion in the International Classification of Epilepsy and Epileptic Syndromes.
- Recognizing this benign, familial epilepsy is crucial for accurate diagnosis and management.
- Further research into its genetic basis may reveal new therapeutic targets.
Introduction And Clinical Cases:
We present two patients who at the ages of 5 and 17 months respectively presented with convulsive crises with motor signs, of partial onset and secondary generalization, which eventually became normal. Both patients had a family history of first degree relatives with similar illnesses and are at present-five years later-well and with normal development, school achievement and neurological examination findings. The clinical characteristics, normal biochemical and neuroimaging investigations and EEG characteristics suggest the diagnosis of benign partial epilepsy of early infancy. This syndrome is characterized by its appearance during the first year of life, having no known etiological factors, with partial crises occurring several times a day and with a course leading to remission. Its frequency may be greater than is thought. There is a pattern of dominant autosomal inheritance, with a gene recently found on chromosome 19.
Conclusion:
We consider that this syndrome should be included in the International Classification of Epilepsy and Epileptic Syndromes as benign familial idiopathic partial epilepsy.