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Case ReportCase Report
Open Access

Diagnosis and management of cerebral folate deficiency

A form of folinic acid-responsive seizures

Raidah S. Al-Baradie and Mohammed W. Chudary
Neurosciences Journal October 2014, 19 (4) 312-316;
Raidah S. Al-Baradie
From the Department of Pediatric Neurology, King Fahd Specialist Hospital, Dammam, Kingdom of Saudi Arabia
MD, ABMS
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  • For correspondence: [email protected]
Mohammed W. Chudary
From the Department of Pediatric Neurology, King Fahd Specialist Hospital, Dammam, Kingdom of Saudi Arabia
MD
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References

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    1. Hyland K,
    2. Arnold LA
    (2002) Value of lumber puncture in diagnosis of infantile epilepsy and folinic acid-responsive seizures. J Child Neurol 17, Suppl 3, 3S48–S55, discussion 3S56.
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    (2009) Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 65, 550–556.
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    (2009) Folate receptor alpha defect causes cerebral folate transport deficiency: A treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet 85, 354–363.
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    (2010) Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis 33, 792–802.
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    (2012) Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency. Brain 135, Pt 7, 2022–2031.
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    (2005) Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. N Engl J Med 352, 1985–1991.
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    (2007) Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. Neuropediatrics 38, 179–183.
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    1. Pineda M,
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    1. Cario H,
    2. Smith DE,
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    4. Blau N,
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    (2011) Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am J Hum Genet 88, 226–231.
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    1. Frye RE,
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    (2013) Cerebral folate receptor autoantibodies in autism spectrum disorder. Mol Psychiatry 18, 369–381.
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Neurosciences Journal: 19 (4)
Neurosciences Journal
Vol. 19, Issue 4
1 Oct 2014
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Diagnosis and management of cerebral folate deficiency
Raidah S. Al-Baradie, Mohammed W. Chudary
Neurosciences Journal Oct 2014, 19 (4) 312-316;

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Raidah S. Al-Baradie, Mohammed W. Chudary
Neurosciences Journal Oct 2014, 19 (4) 312-316;
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