Archives de pédiatrie – Vol. 19 – N° 6S1 – p. HH – Approches thérapeutiques des convulsions néonatales – EM|consulte. This page includes the following topics and synonyms: Neonatal Seizure, English, Convulsions in newborn, CONVULSIONS NEONATAL, Convulsions of. Benign neonatal convulsions (BNC) is a relatively uncommon type of epilepsy that happens in babies and very young infants. The seizures, or convulsions, start .
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Benign familial neonatal epilepsy BFNE is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. Prevalence is currently unknown since this disorder is possibly overlooked. About families have been reported to date.
Seizure onset is usually between the second and the eighth day of life, in otherwise healthy newborns. Seizures are mostly focal involving alternatively both sides of the body and apnea is frequently associated. Seizures can be isolated or in clusters, are generally brief and last minutes. However, they can be very frequent, occurring up to 20 convuldions a day, and may evolve into status epilepticus. During the interictal period, neonates are neurologically normal, although some degree of sedation can be seen in response nonwtales anti-epileptic medications.
Although most patients do receive antiepileptic treatment in the neonatal period, seizures have been shown to remit spontaneously after the first months of life, and are usually not seen after the first year of life.
Orphanet: Convulsions neonatales benignes familiales Epilepsie neonatale benigne familiale
Subsequent psychomotor development is normal. Electroclinical events are suggestive of the disorder. Asymmetric tonic posturing associated with apnea and followed by focal or bilateral clonic jerking is the typical seizure type. In BFNE, neonates are neurologically normal and neurocognitive development is normal. Ictal electroencephalogram EEG may show focal interictal abnormalities, mainly over the central regions, but otherwise the EEG background is normal. The diagnosis is confirmed by genetic testing.
Differential diagnosis includes benign familial neonatal-infantile seizures and benign familial infantile epilepsy. Prenatal diagnosis is possible if the disease-causing mutation has already been identified in the family. Transmission is autosomal dominant with incomplete penetrance. Rare cases are due to de novo mutations. The use of anticonvulsant therapy e.
Usually, patients require treatment for the first months of life. However, it is important for clinicians and family to be aware that some patients require treatment beyond 12 months of age. Seizures normally disappear during the first year of life and patients do not display any neurological sequelae.
Later seizures have been reported, including occasional febrile seizures and idiopathic epilepsy syndromes in childhood, in particular Rolandic epilepsy.
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Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Benign familial neonatal epilepsy BFNE is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days convulsiond life. Summary Epidemiology Prevalence is currently unknown since this disorder is possibly overlooked.
Etiology of convulsions in neonatal and infantile period.
convulskons Clinical description Seizure onset is usually between the second and the eighth day of life, in otherwise healthy newborns. Diagnostic methods Electroclinical events are suggestive of the disorder.
Differential diagnosis Differential diagnosis includes benign familial neonatal-infantile seizures and benign familial infantile epilepsy. Antenatal diagnosis Prenatal diagnosis is possible if the disease-causing mutation has already been identified in the family. Genetic counseling Transmission is autosomal dominant with incomplete penetrance. Management and treatment The use of anticonvulsant therapy e. Prognosis Prognosis is good. Detailed information Professionals Clinical genetics review English Additional information Further information on convhlsions disease Classification s 4 Gene s 2 Clinical signs and symptoms Publications in PubMed Other website s 8.
Health care resources for this disease Expert centres Diagnostic tests 43 Patient organisations 47 Orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.