Pyridoxine Dependent Epilepsy

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منابع مشابه

Pyridoxine-Dependent Epilepsy

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: 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...

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Pyridoxine-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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Pyridoxine dependent epilepsy and antiquitin deficiency

Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up Sylvia Stockler ⁎, Barbara Plecko , Sidney M. Gospe Jr. , Marion Coulter-Mackie , Mary Connolly , Clara van Karnebeek , Saadet Mercimek-Mahmutoglu , Hans Hartmann , Gunter Scharer , Eduard Struijs , Ingrid Tein , Cornelis Jakobs , Peter Clayto...

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Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy.

An 18-year-old man was treated from birth with chronic high dose pyridoxine (vitamin B6) up to 2000 mg per day for pyridoxine-dependent seizures. Within two years of onset of treatment, he developed a sensory neuropathy which did not progress over the following 16 years. Electrophysiological studies were consistent with a pure sensory neuronopathy expressed as centripetal degeneration of proces...

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ژورنال

عنوان ژورنال: Pediatric Neurology Briefs

سال: 1992

ISSN: 2166-6482,1043-3155

DOI: 10.15844/pedneurbriefs-6-9-11