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Seizures, benign familial neonatal, 1; BFNS1

Disease ID:137
Name:Seizures, benign familial neonatal, 1; BFNS1
Associated with:1 target
Benign familial neonatal-infantile seizures | Benign familial neonatal seizures | Benign neonatal seizures
Database Links
Disease Ontology: DOID:14264
OMIM: 121200
Orphanet: ORPHA1949, ORPHA140927


Role:  Defects in KCNQ2 are the cause of benign familial neonatal convulsions type 1 (BFNC1), and myokymia with neonatal epilepsy. Neonatal epilepsy or benign familial neonatal convulsions (BFNC) is a generalized, idiopathic epilepsy syndrome of the newborn. Neonatal epilepsy with myokymia consists of a syndrome in which neonatal epilepsy is followed later in life by myokymia, the 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).
Drugs:  Retigabine, flupirtine
Side effects:  Retigabine: chills, pain, symptomatic hypotension, dizziness, nausea, myalgia, sweating, vomiting, asthenia and somnolence. Flupirtine: drowsiness, dizziness, dry mouth, pruritis and nausea
Therapeutic use:  Retigabine and flupirtine have shown antiepileptic activity in humans and in a broad range of seizure models in rodents. Retigabine and flupirtine may possess actions unrelated to KCNQ opening. It is unclear, therefore, if the efficacy of retigabine and flupirtine in animals models of epilepsy and pain and in human studies is entirely due to KCNQ activation.
Comments:  BFNC1 is an autosomal dominant form of epilepsy in the newborn that clears spontaneously after a few weeks and is followed by normal psychomotor development. KCNQ activating compounds openers also have potential for the treatment of other CNS disorders characterized by neuronal hyperexcitability, such as migraine, and neuropathic pain. Blockers have been demonstated to enhance learning and memory in animal models.
References:  1-6
Mutations:  Kv7.2 is associated with 4 mutation. Click here for details


No ligand related data available for Seizures, benign familial neonatal, 1; BFNS1


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1. Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein SA. (2001) MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell, 104 (2): 217-31. [PMID:11207363]

2. Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK. (1998) A potassium channel mutation in neonatal human epilepsy. Science, 279 (5349): 403-6. [PMID:9430594]

3. Coghlan MJ, Carroll WA, Gopalakrishnan M. (2001) Recent developments in the biology and medicinal chemistry of potassium channel modulators: update from a decade of progress. J Med Chem, 44 (11): 1627-53. [PMID:11356099]

4. Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK. (2001) Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci USA, 98 (21): 12272-7. [PMID:11572947]

5. Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV et al.. (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet, 18 (1): 25-9. [PMID:9425895]

6. Wickenden AD, Roeloffs R, McNaughton-Smith G, Rigdon GC. (2004) KCNQ potassium channels: drug targets for the treatment of epilepsy and pain. Expert Opin Ther Pat, 14 (4): 1-13.