Publications by authors named "Rana Al-Shami"
Article Synopsis
- The study examines the prevalence and characteristics of congenital LAMA2-RD in 21 patients from Gulf and Middle Eastern families, revealing distinct clinical features and a relatively high point prevalence of 0.8 in 100,000 in Qatar.
- The affected patients exhibited classic symptoms like hypotonia and muscular weakness, with none achieving independent walking; unique associated features such as nephrocalcinosis and cardiac arrest were documented for the first time.
- Genetic analysis revealed LAMA2 mutations as responsible for 48% of cases, highlighting a common founder mutation found in multiple families, including novel and recurrent variants affecting LAMA2 function.
Purpose: To evaluate the role of neuro-imaging in children presenting with the first afebrile seizure and determine factors that influence the outcome of imaging in a large paediatric emergency centre.
Method: This is a retrospective review of the medical records of all patients presenting with the first non-febrile seizure to a large paediatric emergency centre in the state of Qatar. Seizure classification followed the current ILAE classification system.