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Volumn 39, Issue 5, 2008, Pages 276-279

Pyridoxine-dependent epilepsy: Normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness

Author keywords

Antiquitin; IQ; Pyridoxine dependent seizures; Status epilepticus; Visual seizures; Vitamin B6

Indexed keywords

AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; CARBAMAZEPINE; CLONAZEPAM; DIAZEPAM; PHENOBARBITAL; PHENYTOIN; PIPECOLIC ACID; PRIMIDONE; PYRIDOXINE; VALPROIC ACID;

EID: 63249118726     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0029-1202833     Document Type: Article
Times cited : (33)

References (10)
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  • 2
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    • Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol 2001; 43: 416-420
    • (2001) Dev Med Child Neurol , vol.43 , pp. 416-420
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  • 4
    • 0021962790 scopus 로고
    • Atypical presentation of pyridoxine-dependent seizures: A treatable cause of intractable epilepsy in infants
    • Goutieres F, Aicardi J. Atypical presentation of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. Ann Neurol 1985; 17: 117-120
    • (1985) Ann Neurol , vol.17 , pp. 117-120
    • Goutieres, F.1    Aicardi, J.2
  • 5
    • 0018134207 scopus 로고
    • Pyridoxol metabolism in vitamin B6-responsive convulsions of early infancy
    • Heeley A, Pugh R, Clayton B et al. Pyridoxol metabolism in vitamin B6-responsive convulsions of early infancy. Arch Dis Child 1978; 53: 794-802
    • (1978) Arch Dis Child , vol.53 , pp. 794-802
    • Heeley, A.1    Pugh, R.2    Clayton, B.3
  • 7
    • 33644821320 scopus 로고    scopus 로고
    • Mutations in antiquitinin individuals with pyridoxine-dependent seizures
    • Mills PB, Struys E, Jakobs C et al. Mutations in antiquitinin individuals with pyridoxine-dependent seizures. Nat Med 2006; 12: 307-309
    • (2006) Nat Med , vol.12 , pp. 307-309
    • Mills, P.B.1    Struys, E.2    Jakobs, C.3
  • 8
    • 0033016474 scopus 로고    scopus 로고
    • Long-term follow-up of an individual with vitamin B6-dependent seizures
    • Ohtsuka Y, Hattori J, Ishida T et al. Long-term follow-up of an individual with vitamin B6-dependent seizures. Dev Med Child Neurol 1999; 41: 203-206
    • (1999) Dev Med Child Neurol , vol.41 , pp. 203-206
    • Ohtsuka, Y.1    Hattori, J.2    Ishida, T.3
  • 9
    • 33845964751 scopus 로고    scopus 로고
    • Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
    • Plecko B, Paul K, Paschke E et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat 2007; 28: 19-26
    • (2007) Hum Mutat , vol.28 , pp. 19-26
    • Plecko, B.1    Paul, K.2    Paschke, E.3
  • 10
    • 33947574490 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures: A family phenotype that leads to severe cognitive deficits, regardless of treatment regime
    • Rankin PM, Harrison S, Chong WK et al. Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol 2007; 49: 300-305
    • (2007) Dev Med Child Neurol , vol.49 , pp. 300-305
    • Rankin, P.M.1    Harrison, S.2    Chong, W.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.