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1.
Neuropediatrics ; 53(6): 440-444, 2022 12.
Article in English | MEDLINE | ID: mdl-35777663

ABSTRACT

OBJECTIVE: This study was aimed to determine the rate, timing, and risk factors of acute recurrence of seizures in the children admitted for nonfebrile seizure in the emergency department (ED). METHODS: This multicenter prospective study was conducted in the ED of three hospitals. All consecutive visits of children aged 28 days to 15 years who attended the ED for a nonfebrile seizure for 1 year were included in the study and prospectively followed. The rate of acute seizure recurrence within 24 hours was evaluated and association with potential risk factor was tested. Timing of seizure recurrence was assessed. RESULTS: A total of 181 ED visits were enrolled. Overall, 19.9% (36/181) of children presented acute seizure recurrence, 50% of seizure recurrence occurred during the 2 hours after ED arrival and 70% within 6 hours. Multivariable analysis showed that age of <5 years and seizure recurrence in the emergency department were associated with a significant increase in acute recurrence risk. CONCLUSION: Early seizure recurrence is common in children with nonfebrile seizure, with younger children at higher risk. Based on these findings, acute recurrence risk after a nonfebrile seizure should justify to observe the children admitted for a nonfebrile seizure in the ED, especially young children. A larger study should analyze other risk factors associated with increased risk of acute seizure recurrence and help ED management.


Subject(s)
Emergency Service, Hospital , Seizures , Child , Humans , Child, Preschool , Prospective Studies , Seizures/diagnosis , Seizures/epidemiology , Seizures/complications , Hospitalization , Risk Factors , Recurrence , Retrospective Studies
2.
Am J Med Genet A ; 167A(10): 2314-8, 2015 Oct.
Article in English | MEDLINE | ID: mdl-25959266

ABSTRACT

Mutations in the KCNQ2 gene, encoding a potassium channel subunit, were reported in patients presenting epileptic phenotypes of varying severity. Patients affected by benign familial neonatal epilepsy (BFNE) are at the milder end of the spectrum, they are affected by early onset epilepsy but their subsequent neurological development is usually normal. Mutations causing BFNE are often inherited from affected parents. Early infantile epileptic encephalopathy type 7 (EIEE7) is at the other end of the severity spectrum and, although EIEE7 patients have early onset epilepsy too, their neurological development is impaired and they will present motor and intellectual deficiency. EIEE7 mutations occur de novo. Electrophysiological experiments suggested a correlation between the type of mutation and the severity of the disease but intra and interfamilial heterogeneity exist. Here, we describe the identification of KCNQ2 mutation carriers who had children affected with a severe epileptic phenotype, and found that these individuals were mosaic for the KCNQ2 mutation. These findings have important consequences for genetic counseling and indicate that neurological development can be normal in the presence of somatic mosaicism for a KCNQ2 mutation.


Subject(s)
Aicardi Syndrome/genetics , Epilepsy, Benign Neonatal/genetics , KCNQ2 Potassium Channel/genetics , Mosaicism , Mutation , Spasms, Infantile/genetics , Aicardi Syndrome/diagnosis , Aicardi Syndrome/pathology , DNA Mutational Analysis , Epilepsy, Benign Neonatal/diagnosis , Epilepsy, Benign Neonatal/pathology , Exons , Female , Gene Expression , Humans , Infant , Infant, Newborn , Inheritance Patterns , Male , Phenotype , Severity of Illness Index , Spasms, Infantile/diagnosis , Spasms, Infantile/pathology
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