Publications by authors named "J Chavany"
Article Synopsis
- Early onset epileptic encephalopathy with suppression-burst, particularly the KCNQ2-related form (KCNQ2-REE), is a severe epilepsy that mainly stems from genetic mutations in the KCNQ2 gene, which codes for a potassium channel subunit.
- Researchers created a knock-in mouse model with the p.(Thr274Met) mutation to investigate the condition's mechanisms and potential treatments.
- The Kcnq2 mice experience seizures starting around postnatal day 20 and show cognitive deficits in spatial learning but do not have structural brain abnormalities and have a shorter lifespan, with 25% unexpectedly dying by three months.
Article Synopsis
- Acute liver failure (ALF) in children is a critical condition often stemming from drug toxicity, autoimmune issues, metabolic disorders, or infections, but in about 50% of cases, the cause remains unclear.
- This report describes three children with recurrent ALF linked to specific genetic variants (NBAS and SCYL1), who exhibited no common symptoms related to these conditions.
- Two of the patients received liver transplants and are now healthy, leading to the suggestion that genetic testing for NBAS and SCYL1 be considered in similar unexplained cases of ALF.
[Apraxia regarding pain (loss of practical reactivity to escape from danger)].
Psychiatr Neurol (Basel)
November 1998