Both gain and loss of KV1.2 function cause epilepsy, precluding the prediction of variant effects; and while H310 is conserved throughout the KV‐channel superfamily, it is largely understudied. We investigated both variants in heterologously expressed, human KV1.2 channels by immunocytochemistry, ...
Summary KCNT1 mutations have been found in epilepsy of infancy with migrating focal seizures (EIMFS; also known as migrating partial seizures in infancy),... C Ohba,M Kato,N Takahashi,... - 《Epilepsia》 被引量: 53发表: 2015年 Severe early-onset epileptic encephalopathy due to mutations in...
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K + channel properties. Ann Neurol 2017;81(5):677-689. doi: 10.1002/ana.24929. PMID: 2,838,069. b Van Bogaert P. KCTD7-related progressive myoclonus epilepsy. Epileptic Disord 2016;18(S2):115-119. ...
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68, 1327–1332 (2001). Article CAS Google Scholar Nava, C. et al. De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat. Genet. 46, 640–645 (...
Coimbra, Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. Clin Genet, 2015. 87(2): p. e1-3.Pena SDJ and Coimbra RLM (2015) Ataxia and myoclonic epilepsy due to a het- erozygous new mutation in KCNA2: proposal for a new ...
Developmental 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 of the potassium channels K谓1.2, has b...
PARTIAL 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 encephalopathies. Here, we report ...
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 ...
EpilepsyGene variationKCNA2West syndromeTopiramateWest syndrome is a devastating disorder characterized by a triad of epileptic spasms, abnormal electroencephalography (EEG), and developmental arrest or psychomotor delay. In addition to early diagnosis, knowing the etiology of the condition is also ...
Developmental and epileptic encephalopathies are devastating disorders characterized by epilepsy, intellectual disability, and other neuropsychiatric symptoms, for which available treatments are largely ineffective. Following a precision medicine approach, we show for KCNA2-encephalopathy that the K+ channel ...