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Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions:

机译:在两个具有良性家族性新生儿惊厥的家庭中的两个新型KCNQ2突变:

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Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in KCNQ2 are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits. The authors report the clinical presentations, response to medication, and intrafamilial phenotypic variability in 2 families with benign familial neonatal convulsions, carrying previously unreported heterozygous missense mutations, c.1066CG (p.Leu356Val) and c.1721GA (p.Gly574Asp), in KCNQ2. The cases reported herein suggest that inherited missense mutations in KCNQ2 can be associated with an intermediate phenotype and illustrate the challenges associated with prognosis and counselling for individuals with inherited missense mutations in KCNQ2.
机译:良性家族性新生儿惊厥是一种罕见的常染色体显性遗传性癫痫综合症,其特征是在生命的最初几天无故发作,精神运动发育正常以及新生儿癫痫发作的阳性代际家族史。超过90%的受影响个体已遗传了KCNQ2的因果突变,该基因编码钾电压门控通道亚家族Q,成员2。KCNQ2的突变也与严重的新生儿脑病表型有关,与癫痫发作控制不良和神经发育缺陷有关。作者报告了2个家族性良性新生儿惊厥的临床表现,对药物的反应以及家族内表型变异,这些家族携带先前未报告的杂合错义突变,即c.1066C> G(p.Leu356Val)和c.1721G

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