Biomaterial Database

When is a child with status epilepticus likely to have Dravet syndrome? 2014

François Le Gal, and Sébastien Lebon, and Gian Paolo Ramelli, and Alexandre N Datta, and Danielle Mercati, and Oliver Maier, and Christophe Combescure, and Maria Isabel Rodriguez, and Margitta Seeck, and Eliane Roulet, and Christian M Korff

Psychiatric Genetic Unit, Genetic Medicine Service, University Hospitals, Geneva, Switzerland; Molecular Diagnostic Laboratory, Genetic Medicine Service, University Hospitals, Geneva, Switzerland.

OBJECTIVE To identify clinical risk factors for Dravet syndrome (DS) in a population of children with status epilepticus (SE). METHODS Children aged between 1 month and 16 years with at least one episode of SE were referred from 6 pediatric neurology centers in Switzerland. SE was defined as a clinical seizure lasting for more than 30min without recovery of normal consciousness. The diagnosis of DS was considered likely in previously healthy patients with seizures of multiple types starting before 1 year and developmental delay on follow-up. The presence of a SCN1A mutation was considered confirmatory for the diagnosis. Data such as gender, age at SE, SE clinical presentation and recurrence, additional seizure types and epilepsy diagnosis were collected. SCN1A analyses were performed in all patients, initially with High Resolution Melting Curve Analysis (HRMCA) and then by direct sequencing on selected samples with an abnormal HRMCA. Clinical and genetic findings were compared between children with DS and those with another diagnosis, and statistical methods were applied for significance analysis. RESULTS 71 children with SE were included. Ten children had DS, and 61 had another diagnosis. SCN1A mutations were found in 12 of the 71 patients (16.9%; ten with DS, and two with seizures in a Generalized Epilepsy with Febrile Seizures+(GEFS+) context). The median age at first SE was 8 months in patients with DS, and 41 months in those with another epilepsy syndrome (p<0.001). Nine of the 10 DS patients had their initial SE before 18 months. Among the 26 patients aged 18 months or less at initial SE, the risk of DS was significantly increased for patients with two or more episodes (56.3%), as compared with those who had only one episode (0.0%) (p=0.005). CONCLUSIONS In a population of children with SE, patients most likely to have DS are those who present their initial SE episode before 18 months, and who present with recurrent SE episodes.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004831	Epilepsies, Myoclonic	A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic.	Idiopathic Myoclonic Epilepsy,Myoclonic Absence Epilepsy,Myoclonic Encephalopathy,Myoclonic Epilepsy,Symptomatic Myoclonic Epilepsy,Benign Infantile Myoclonic Epilepsy,Cryptogenic Myoclonic Epilepsy,Doose Syndrome,Dravet Syndrome,Early Childhood Epilepsy, Myoclonic,Early Childhood, Myoclonic Epilepsy,Encephalopathy, Myoclonic,Epilepsy, Early Childhood, Myoclonic,Epilepsy, Myoclonic, Early Childhood,Epilepsy, Myoclonic, Infantile,Epilepsy, Myoclonic, Infantile, Benign,Epilepsy, Myoclonic, Infantile, Severe,Epilepsy, Myoclonus,Infantile Severe Myoclonic Epilepsy,Myoclonic Astatic Epilepsy,Myoclonic Epilepsy, Benign Infantile,Myoclonic Epilepsy, Early Childhood,Myoclonic Epilepsy, Infantile,Myoclonic Epilepsy, Infantile, Benign,Myoclonic Epilepsy, Infantile, Severe,Myoclonic Epilepsy, Severe Infantile,Myoclonic Epilepsy, Severe, Of Infancy,Myoclonic Seizure Disorder,Severe Infantile Myoclonic Epilepsy,Severe Myoclonic Epilepsy Of Infancy,Severe Myoclonic Epilepsy, Infantile,Astatic Epilepsies, Myoclonic,Astatic Epilepsy, Myoclonic,Cryptogenic Myoclonic Epilepsies,Dravet Syndromes,Encephalopathies, Myoclonic,Epilepsies, Cryptogenic Myoclonic,Epilepsies, Idiopathic Myoclonic,Epilepsies, Infantile Myoclonic,Epilepsies, Myoclonic Absence,Epilepsies, Myoclonic Astatic,Epilepsies, Symptomatic Myoclonic,Epilepsy, Cryptogenic Myoclonic,Epilepsy, Idiopathic Myoclonic,Epilepsy, Infantile Myoclonic,Epilepsy, Myoclonic,Epilepsy, Myoclonic Absence,Epilepsy, Myoclonic Astatic,Epilepsy, Symptomatic Myoclonic,Idiopathic Myoclonic Epilepsies,Infantile Myoclonic Epilepsies,Infantile Myoclonic Epilepsy,Myoclonic Absence Epilepsies,Myoclonic Astatic Epilepsies,Myoclonic Encephalopathies,Myoclonic Epilepsies,Myoclonic Epilepsies, Cryptogenic,Myoclonic Epilepsies, Idiopathic,Myoclonic Epilepsies, Infantile,Myoclonic Epilepsies, Symptomatic,Myoclonic Epilepsy, Cryptogenic,Myoclonic Epilepsy, Idiopathic,Myoclonic Epilepsy, Symptomatic,Myoclonic Seizure Disorders,Myoclonus Epilepsies,Myoclonus Epilepsy,Seizure Disorder, Myoclonic,Seizure Disorders, Myoclonic,Symptomatic Myoclonic Epilepsies
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths