In addition to developing oral dexpramipexole for eosinophil associated diseases, Knopp's preclinical Kv7 platform is directed to small molecule treatments for KCNQ2
epileptic encephalopathy and other CNS hyperexcitability disorders.
Interestingly, a PNH associated KCNQ2
mutation has been described in a family with both PNH and neonatal seizures.
Bu mutasyonlardan en sik goruleni KCNQ2
olarak rapor edilmistir (14).
XEN1101 is a Kv7 potassium channel opener being developed by Xenon for the treatment of epilepsy including: treatment-resistant adult and pediatric focal seizures as well as rare, pediatric forms of epilepsy, such as EIEE7, an early infantile epileptic encephalopathy associated with mutations in the KCNQ2
gene encoding the Kv7.2 potassium channel; and potentially other neurological disorders.
Preliminary studies indicate that agnogenic EOEE might be related to gene mutation, and the results of genetic tests of part of our enrolled cases showed gene mutation in gene STXBP1, SCN1A, and KCNQ2
in our patient, which also have been reported in the previous studies., 33 (53.2%) infants in the nEOEE group had certain etiology, and most of them were mild to moderate HIE, IVH of degree II, benign familial neonatal convulsion, transient hypoglycemia, hypocalcemia, and hypomagnesemia.
In human bodies, ankyrins have been confirmed to bind to the voltage-gated potassium channel subunits KCNQ2
and KCNQ3, regulating their normal functions .
Denver, CO, March 13, 2016 --(PR.com)-- KCNQ2
Cure Alliance is pleased to announce that it has received a $250,000 commitment from the Anthony Gleason Family Foundation to fund vital research into treatments or a cure for KCNQ2
From genome-wide association studies, it is known that many of the genes related to BD regulate the structure and the activity of ion channels (e.g., CACNA1C for calcium channels and KCNQ2
for potassium channels) that are involved in neurotransmission, neuroplasticity, emotional processing, and cognition [18, 48, 49].
In addition, risk alterations were found in genes associated with fragile X or related syndromes (CAPRIN1 and AFF2), social-cognitive deficits (VIP), epilepsy (SCN2A and KCNQ2
) as well as NRXN1 and CHD7, which causes ASD-associated CHARGE syndrome.
A novel potassium channel gene, KCNQ2
, is mutated in an inherited epilepsy of newborns.
(6) While mutation in a K+ channel gene HERG or KCNQ2
on chromosome 7 results in LQT2 (about 35-45% of cases).
Moreover, mutations in KCNQ2
and KCNQ3 genes have been shown to be associated with benign familial neonatal convulsions (54,55).