However, we have identified a mutation in KCNA2 that we believe to be responsible for the disease in our patient. This gene, which encodes a member of the potassium channel, voltage-gated, shaker-related subfamily, has not been previously described as a cause of disease in humans, but ...
gene encoding the voltage-gated potassium channel KV1.2. This mutation has been previously reported in patients presenting with epileptic encephalopathy (MIM # 616366) and early-onset polymorphic seizures [[1], [2], [3]] but, unlike the other cases, the clinical aspects of our patient included...
(one mutation recurred three times independently). Four individuals presented with febrile and multiple afebrile, often focal seizure types, multifocal epileptiform discharges strongly activated by sleep, mild to moderate intellectual disability, delayed speech development and sometimes ataxia. Functional ...
PURPOSE: To report novel clinical manifestations of KCNA2 mutation related epileptic encephalopathy. METHODS: Blood samples were sent for whole exome and S... M Sachdev,M Gaínza-Lein,D Tchapyjnikov,... - 《Seizure》 被引量: 1发表: 2017年 Roles ofKCNA2in Neurological Diseases: from Physiol...
Chromosomal microarray, fragile X testing, and epilepsy gene panel were negative. Whole exome sequencing found her to be heterozygote for KCNA2 mutation (autosomal dominant), R297Q variant with specific mutation c.890G>A.Conclusions: KCNA2 mutation variants can have wide phenotypic spectrum with ...
Here, we identified four independently occurring de novo KCNA2 mutations in six EE patients, with one mutation recurring three times. Four of the studied patients presented with febrile and multiple afebrile, often focal seizure types, multifocal epileptiform discharges strongly activated by sleep, ...
In the asymptomatic mother, the mutated copy of the CDKL5 gene was inactivated in 90% of blood cells. We also identified a premature stop codon (p.Arg926*) in IQSEC2 in a patient with a Rett-like phenotype. Finally, exome sequencing enabled us to characterize a heterozygous de novo ...
We speculate that the therapeutic effect of TPM in this patient is partially due to the inhibition of carbonic anhydrase.Mutations in the KCNA2 gene should be considered for patients with West syndrome. The TPM treatment is probably effective for KCNA2 -associated disorders....
PHENOTYPEXENOPUSELECTROENCEPHALOGRAPHYPARTIAL epilepsyELECTROPHYSIOLOGYRecently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic ...
GENETIC mutationSYMPTOMSBRAIN diseasesEPILEPSYDevelopmental and epileptic encephalopathy is a condition in which epilepsy is associated with neurodevelopmental delay, with various associated genetic mutations already described. The KCNA2 gene, responsible for encoding a subunit ...