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Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy
Published on: September 20, 2024
Epilepsy in ring 14 chromosome syndrome
Nicola Specchio1, Marina Trivisano, Domenico Serino
1Neurology Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. nicola.specchio@opbg.net
Epilepsy & Behavior : E&B
|November 20, 2012
Summary
Ring chromosome 14 syndrome is a rare disorder associated with drug-resistant epilepsy, often starting in infancy. Early identification of common seizure patterns and neurological signs aids diagnosis and management.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Ring chromosome 14 syndrome is a rare genetic disorder.
- Epilepsy is a common and challenging manifestation of this syndrome.
Observation:
- Two new cases of drug-resistant epilepsy associated with ring chromosome 14 are presented.
- Literature review highlights common epileptological features in r(14) syndrome.
Findings:
- Epilepsy onset typically occurs within the first year of life.
- Seizures can be generalized or focal, sometimes fever-induced, with specific ictal characteristics.
- Constant features include mental retardation, delayed motor skills, and frequent dysmorphic features.
Implications:
- Recognizing common clinical and EEG findings can aid early diagnosis of r(14) syndrome.
- This knowledge supports genetic counseling and treatment strategies for affected individuals.
- Understanding these features is crucial for clinicians managing challenging epilepsy cases.
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