Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

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A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report

Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...

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a new nonsense mutation in cdkl5 gene in a male patient with early onset refractory epilepsy: a case report

background the x-linked cyclin-dependent kinase like 5 (cdkl5/stk9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. cdkl5 mutations have been shown to be more frequent among female patients. results here we report a 6- month male patient, second child of a healthy non consanguineous in the irani...

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CDKL5 and ARX mutations in males with early-onset epilepsy.

Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absen...

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Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28-month-old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the cortical origin of myoclonus; however, it was n...

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ژورنال

عنوان ژورنال: Molecular Case Studies

سال: 2018

ISSN: 2373-2865,2373-2873

DOI: 10.1101/mcs.a002360