Benign familial neonatal seizures

Genes: 

Sinonimo: 

Benign familial neonatal convulsions;Benign familial neonatal epilepsy

Tipo de test: 

Tiempo de espera: 

25 dias

Más información

Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Prevalence of the syndrome is currently unknown. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age. However, about 10 to 15% of patients have febrile or afebrile seizures later in childhood. Seizures observed in these newborns are brief and of a mixed type, starting with tonic posture, apnea, and often progressing to clonic movements and motor automatisms. The neonates are neurologically normal and neurocognitive development is usually normal. Electroclinical events are not specific and BNFS remains a diagnosis of exclusion. of autosomal dominantly inherited Genetic linkage studies have mapped two disease loci for BFNS, EBN1 on chromosome 20q13.3 and EBN2 on chromosome 8q24, indicating a genetically heterogeneous disorder. The causative genes, KCNQ2 on 20q and KCNQ3 on 8q, were identified as voltage-gated potassium channel genes. A form of idiopathic generalized epilepsy (EGI) with autosomal dominant inheritance and mapping to 8q24 may be allelic to EBN2. The role of anticonvulsant therapy in promoting seizures remission in the neonatal period is not yet clear, but the outlook has been consistently favorable.

Fuente: 

Tomado de Orphanet

Prevalencia: 

<1 / 1 000 000

Herencia: 

Autosomal dominant