Abstract
Investigators from University Hospital of Rennes; Necker Hospital, Paris; and University Paris Descartes, France used a questionnaire to study the transition and transfer from pediatric to adult health-care system in patients with Dravet syndrome and their families.
Highlights
Investigators at Swansea University and other centers in the UK, Australia, and Belgium studied the genotype-phenotype correlations in 97 individuals with a clinical diagnosis of hyperekplexia; 61 cases had mutations in GLRA1, 24 cases in SLC6A5 and 12 in GLRB
All families reported a positive experience in the pediatric health care system
All gene-positive cases presented in the neonatal period and clonazepam was effective treatment in 95%
Summary
Investigators at Swansea University and other centers in the UK, Australia, and Belgium studied the genotype-phenotype correlations in 97 individuals with a clinical diagnosis of hyperekplexia; 61 cases had mutations in GLRA1, 24 cases in SLC6A5 and 12 in GLRB. Epilepsia 2008 Dec;49(12):2131-9) is abridged as follows: 1) age at onset between 4 and 10 years (modified to within the first 3 years for this study); 2) normal neurologic exam; 3) brief (4-20 sec) and frequent (many per day); 4) EEG 3-4 Hz spike and slow-wave complexes. TRANSITION FROM PEDIATRIC TO ADULT HEALTH CARE FOR DRAVET SYNDROME PATIENTS
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