M2 PHARMA-December 6, 2017-Pairnomix and KCNQ2
Cure Alliance Present Data from Drug Screening in Cellular Model of KCNQ2
Epileptic Encephalopathy at AES Annual Meeting
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.
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
CACNA1C for calcium channels and KCNQ2
for potassium channels) that are involved in neurotransmission, neuroplasticity, emotional processing, and cognition [18, 48, 49].
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).
M2 PHARMA-October 24, 2017-Pairnomix to Present Data from Gain-of-Function Case Study at 2017 KCNQ2
CURE Alliance Summit
com)-- The summit enables KCNQ2
families to connect and to meet top medical researchers.
The company's preclinical platform is directed to small molecule treatments for neonatal epileptic encephalopathy, a devastating brain disorder of infants caused by a rare mutation in the KCNQ2
Scientists also identified the deleterious mutations variants in four novel, nine known, and eight candidate autism risk genes, including CAPRIN1 and AFF2 (both linked to FMR1 involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2
(also linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.