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Volumn 2, Issue 1, 2016, Pages

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; ETIRACETAM; FOLATE TRANSPORTER; FOLINIC ACID;

EID: 85024374951     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000038     Document Type: Note
Times cited : (14)

References (7)
  • 1
    • 69449106758 scopus 로고    scopus 로고
    • Folate receptor alpha defect causes cerebral folate transport deficiency: A treatable neurodegenerative disorder associated with disturbed myelin metabolism
    • Steinfeld R, Grapp M, Kraetzner R, et al. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet 2009;85:354-363.
    • (2009) Am J Hum Genet , vol.85 , pp. 354-363
    • Steinfeld, R.1    Grapp, M.2    Kraetzner, R.3
  • 2
    • 0036990821 scopus 로고    scopus 로고
    • Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: A novel neurometabolic condition responding to folinic acid substitution
    • Ramaekers VT, Häusler M, Opladen T, Heimann G, Blau N. Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. Neuropediatrics 2002; 33:301-308.
    • (2002) Neuropediatrics , vol.33 , pp. 301-308
    • Ramaekers, V.T.1    Häusler, M.2    Opladen, T.3    Heimann, G.4    Blau, N.5
  • 3
    • 84863193433 scopus 로고    scopus 로고
    • Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
    • Grapp M, Just IA, Linnankivi T, et al. Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency. Brain 2012;135:2022-2031.
    • (2012) Brain , vol.135 , pp. 2022-2031
    • Grapp, M.1    Just, I.A.2    Linnankivi, T.3
  • 4
    • 84888057205 scopus 로고    scopus 로고
    • Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
    • Ohba C, Osaka H, Iai M, et al. Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics 2013;14: 225-232.
    • (2013) Neurogenetics , vol.14 , pp. 225-232
    • Ohba, C.1    Osaka, H.2    Iai, M.3
  • 5
    • 84907675617 scopus 로고    scopus 로고
    • Diagnosis and management of cerebral folate deficiency A form of folinic acid-responsive seizures
    • Al-Baradie RS, Chaudhary MW. Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. Neurosciences (Riyadh) 2014;19:312316.
    • (2014) Neurosciences (Riyadh) , vol.19 , pp. 312316
    • Al-Baradie, R.S.1    Chaudhary, M.W.2
  • 6
    • 15244357245 scopus 로고    scopus 로고
    • Cerebral folate deficiency: Life-changing supplementation with folinic acid
    • Hansen FJ, Blau N. Cerebral folate deficiency: life-changing supplementation with folinic acid. Mol Genet Metab 2005; 84:371-373.
    • (2005) Mol Genet Metab , vol.84 , pp. 371-373
    • Hansen, F.J.1    Blau, N.2
  • 7
    • 84897575359 scopus 로고    scopus 로고
    • The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource
    • van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S. The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource. Mol Genet Metab 2014;111:428-438.
    • (2014) Mol Genet Metab , vol.111 , pp. 428-438
    • Van Karnebeek, C.D.1    Shevell, M.2    Zschocke, J.3    Moeschler, J.B.4    Stockler, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.