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ERIC Number: EJ906318
Record Type: Journal
Publication Date: 2007-Apr
Pages: 6
Abstractor: As Provided
Reference Count: 19
ISSN: ISSN-0012-1622
Pyridoxine-Dependent Seizures: A Family Phenotype that Leads to Severe Cognitive Deficits, Regardless of Treatment Regime
Rankin, Peter M; Harrison, Sue; Chong, W. K.; Boyd, Stewart; Aylett, Sarah E.
Developmental Medicine & Child Neurology, v49 n4 p300-305 Apr 2007
The neuropsychological and clinical histories of three male siblings affected by pyridoxine-dependent seizures with known homozygous antiquitin mutations are presented. Neuropsychological evaluation is reported from when the siblings were 11, 9, and 7 years of age. Two of the siblings had received early pyridoxine treatment (antenatal, 2-4 wks into pregnancy) and one had received late treatment (2 mo postnatal). However, there was no differential effect on cognitive outcome, with all three siblings having moderate to severe learning disability. Unlike previously reported cases that received early postnatal treatment, none of the siblings had relatively preserved non-verbal cognitive skills. Equally, their intellectual performance over time did not increase above the 1st centile despite high maintenance doses of vitamin B6 (range 16-26 mg/kg/d), and mild sensory neuropathy was reported on nerve conduction studies. The findings in these siblings challenge assumptions that early and high dose pyridoxine treatment can benefit cognition in this population and suggest routine electromyography monitoring may be beneficial. (Contains 2 tables and 2 figures.)
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A