TY - JOUR
T1 - Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation
AU - Leuzzi, Vincenzo
AU - Di Sabato, M. L.
AU - Zollino, M.
AU - Montanaro, M. L.
AU - Seri, S.
PY - 2004/11/23
Y1 - 2004/11/23
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=8844247168&partnerID=8YFLogxK
UR - https://n.neurology.org/content/63/10/1968
U2 - 10.1212/01.WNL.0000144350.97844.94
DO - 10.1212/01.WNL.0000144350.97844.94
M3 - Letter, comment/opinion or interview
C2 - 15557528
AN - SCOPUS:8844247168
SN - 0028-3878
VL - 63
SP - 1968
EP - 1970
JO - Neurology
JF - Neurology
IS - 10
ER -