Long-term outcome in pyridoxine-dependent epilepsy
نویسندگان
چکیده
منابع مشابه
Long-term outcome in pyridoxine-dependent epilepsy.
AIM The long-term outcome of the Dutch pyridoxine-dependent epilepsy cohort and correlations between patient characteristics and follow-up data were retrospectively studied. METHOD Fourteen patients recruited from a national reference laboratory were included (four males, 10 females, from 11 families; median age at assessment 6y; range 2y 6mo-16y). The following data were retrieved: sex; age ...
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A 2-day-old male neonate became increasingly irritable and developed repetitive twitching in the eyelids, face, and limbs around 24 h of life. He was the full-term product of nonconsanguineous parents following a normal pregnancy and uneventful spontaneous vaginal delivery. Investigations for infectious etiologies including blood and urine cultures as well as cerebrospinal fl uid analysis were ...
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Pyridoxine-dependent epilepsy (PDE) is an epileptic encephalopathy characterized by response to pharmacologic doses of pyridoxine. PDE is caused by deficiency of α-aminoadipic semialdehyde dehydrogenase resulting in impaired lysine degradation and subsequent accumulation of α-aminoadipic semialdehyde. Despite adequate seizure control with pyridoxine monotherapy, 75% of individuals with PDE have...
متن کاملPyridoxine dependent epilepsy: a suggestive electroclinical pattern.
AIMS To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis. METHODS A retrospective study was made of all the clinical records and electroencephalograms of neonates identified with pyridoxine dependent seizures between 1983 and 1994, at this hospital. Neonates whose seizures began af...
متن کاملPyridoxine-dependent epilepsy initially responsive to phenobarbital.
Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a 30 day-old girl who presented with seizures during the first day of life, initially responsive to anticonvulsant therapy, which remitted within two weeks. Seizures were charact...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2012
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2012.04347.x