离子通道和自闭分享分享__培训课件.pptxVIP

Name : Date: 12.24Wei-Qun Fang, Wei-Wei Chen,2014IntroductionAutismis a severe neuro devel opmental disorder characterized by impairments in social interaction, deficits in verbal and non-verbal communication and repetitive behavior and restricted interests. Inwardly-rectifying potassium channel 4.1(Kir4.1) Kir4.1 channels oligodendrocytes astrocytescortex thalamus hippocampus brainstemthe resting membrane potential of astrocytes maintain the extracellular ionic and osmoticneuronal activity excitability synaptic functions.Paula A. Garay and A. Kimberley McAllister* ，2010MaterialsMutation analyses of KCNJ10 and KCNJ16 were performed in 52 patients. methodsMolecular genetic analyses(分子遗传分析)Electrophysiology（电生理）Homology modeling（同源建模）In this study, they have investigated the frequency of KCNJ10 and KCNJ16 variants in a cohort of patients in whom epilepsy of“unknown cause” was associated with impairment of either cognitive or communicative abilities or both. ResultsThree children display seizures, Autism Spectrum Disorders (ASD) and intellectual disability.5 years old,persistent motor delay, clumsiness, produced his ?rst words.At 10 months, Patient A-III:2 was seizure-free,whereas his twin brother had persisting seizures that stopped at 12 months on valproate-topiramate bitherapy. At 5 months, impaired social interaction,sleep dif?culties and hypotonia were apparent for both twins. At the age of 7 months, within 24 h, both exhibited epileptic spasms that remitted under ACTH.severe de?cit in social and communicative skills, stereotyped and repetitive behaviors, severe mental retardation, and self- andother-directed injurious behaviors.18 months :ASD6 years old: Autistic featuresArg--GlnVal--MetMutation detection by sequencing. Electropherograms of exon 2 ?anking the mutations in KCNJ10 in unaffected individuals (WT) and propositi in affected kindred (A-III:1, B-III:1). The positions of the heterozyg