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    Neurology. 2004 Nov 23;63(10):1968-70.

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

    Leuzzi V, Di Sabato ML, Zollino M, Montanaro ML, Seri S.

    Source

    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Via dei Sabelli 108, 00185 Rome, Italy. vincenzo.leuzzi@uniroma1.it

    Abstract

    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 not associated with signs of cortical hyperexcitability. 3-Methoxy-4-hydroxy-phenylethylene glycol and valine concentrations were low in CSF.

    PMID:
    15557528
    [PubMed - indexed for MEDLINE]

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