[Ring chromosome 14 syndrome].

Area of Science:

• Genetics
• Neurology
• Rare Diseases

Background:

• Epilepsy is a common neurological disorder with diverse etiologies.
• Rare hereditary conditions can present with complex neurological manifestations.
• Chromosomal abnormalities are known causes of developmental and neurological disorders.

Purpose of the Study:

• To present clinical cases of epilepsy in patients with chromosome 14 deletion.
• To highlight the association between this rare genetic condition and refractory epilepsy.
• To contribute to the understanding of neurological manifestations in chromosome 14 deletion syndrome.

Main Methods:

• Case report presentation.
• Review of clinical history and neurological examinations.
• Genetic analysis confirming deletion on chromosome 14.

Main Results:

• Two patients presented with refractory epilepsy.
• Epilepsy was the primary neurological manifestation.
• Both patients had a confirmed deletion on chromosome 14.

Conclusions:

• Chromosome 14 deletion syndrome can manifest as refractory epilepsy.
• This genetic condition represents a rare cause of epilepsy.
• Further research is warranted to elucidate the mechanisms linking chromosome 14 deletions to epilepsy.