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Custom Vector Construction> | … cDNA was generated (Genscript, Piscataway, NJ) in the pTLNx expression vector, and then from this we generated cRNA by in vitro transcription with the mMessage mMachine SP6 kit (… | Get A Quote |
Episodic ataxia is an umbrella term for a group of nervous system disorders that adversely and episodically affect movement. Episodes are recurrent, characterized by loss of balance and coordination and can be accompanied by other symptoms ranging from nausea to hemiplegia. Episodic Ataxia Type 1 (EA1) is an inherited, autosomal dominant disease caused by sequence variants in , which encodes the voltage-gated potassium channel, KCNA1 (Kv1.1). Here we report a novel loss-of-function pathogenic variant [c.464T>C/p.Leu155Phe] causing frequent, sudden onset of clumsiness or staggering gait in the young female proband. The gene variant was maternally inherited and the mother, whose symptoms also began in childhood,... More