microcephaly—seizures—and developmental delay

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microcephaly—seizures—and developmental delay2016-11-27T05:15:44+00:00

microcephaly—seizures—and developmental delay 


Definition An autosomal recessive neurodevelopmental disorder (OMIM:613402) characterised by infant onset of seizures, progressive primary microcephaly*, severe intellectual disability, delayed motor milestones, minimal to absent speech, often accompanied by behavioural problems with hyperactivity. Some cases are associated with cerebellar atrophy and peripheral neuropathy

*Without neuronal migration or structural defects.

Molecular pathology Defects of PNKP, which encodes polynucleotide kinase 3′-phosphatase, an enzyme that plays a key role in repair of DNA damage, cause microcephaly—seizures—and developmental delay. 

Synonyms Epileptic encephalopathy—early infantile—10, MCSZ, 

References http://www.uniprot.org/uniprot/Q96T60


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