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Literature DB >> 14691641

Benign focal epilepsy with onset in infancy in a patient with 18q-syndrome.

Alberto Verrotti¹, Daniela Trotta, Carmela Salladini, Giovanna di Corcia, Francesco Chiarelli.

Abstract

CASE REPORT: The 18q-syndrome is sometimes associated with epilepsy. We report a child with a 18q deletion who showed the typical manifestations of the syndrome. In addition, she had benign focal epilepsy with onset in infancy characterized by complex partial seizures with a frequency from 1 to 20 per day. This type of epilepsy is a rare condition and this is the first report of benign focal epilepsy with onset in infancy in a child with 18q-syndrome. The EEGs performed during sleep showed low-voltage spikes over the fronto-central region of the left hemisphere. The magnetic resonance imaging of the brain was normal.
CONCLUSION: In conclusion, benign focal epilepsy with onset in infancy could be a condition associated with 18q-syndrome.

Entities: Disease Species

Mesh：

Year: 2003 PMID： 14691641 DOI： 10.1007/s00381-003-0847-5

Source DB: PubMed Journal: Childs Nerv Syst ISSN： 0256-7040 Impact factor: 1.475

13 in total

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Journal: Am J Hum Genet Date: 1993-05 Impact factor: 11.025

6. Benign partial epilepsy in infancy and early childhood with vertex spikes and waves during sleep: a new epileptic form.

Authors: G Capovilla; F Beccaria
Journal: Brain Dev Date: 2000-03 Impact factor: 1.961

Benign focal epilepsy with onset in infancy in a patient with 18q-syndrome.

1. [PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18].

2. Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency.

3. White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): a dysmyelinating disorder?

4. Neurologic manifestations in 18q- syndrome.

Review 5. Molecular analysis of the 18q- syndrome--and correlation with phenotype.

6. Benign partial epilepsy in infancy and early childhood with vertex spikes and waves during sleep: a new epileptic form.

7. Sleep-related, low voltage Rolandic and vertex spikes: an EEG marker of benignity in infancy-onset focal epilepsies.

8. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].

9. Dystonia in a patient with deletion of 18q.

10. Delayed myelination in a patient with 18q- syndrome.

1. Adult-onset seizure disorder in the 18q deletion syndrome.