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seizures, benign familial neonatal, 1

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.
Uniprot Description A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia.
Mondo Term and Equivalent IDs
MONDO:0007365:  seizures, benign familial neonatal, 1
MESH:C567743: 
UMLS:C3149074: