Diagnosis and management of cerebral folate deficiency A form of folinic Acid-Responsive seizures

Neurosciences

Volumn 19, Issue 4, 2014, Pages 312-316

  Al Baradie, Raidah S ^a   Chaudhary, Mohammed W ^a  

^a King Fahd Specialist Hospital   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; FOLINIC ACID; PYRIDOXINE; VALPROIC ACID; VIGABATRIN; 5-METHYLTETRAHYDROFOLATE; FOLATE RECEPTOR 1; FOLR1 PROTEIN, HUMAN; TETRAHYDROFOLIC ACID DERIVATIVE;

ARTICLE; AUTISM; BRAIN DISEASE; CASE REPORT; CEREBELLUM ATROPHY; CEREBRAL FOLATE DEFICIENCY; CEREBROSPINAL FLUID; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DNA DETERMINATION; DRUG DOSE INCREASE; DRUG EFFICACY; DRUG RESPONSE; ELECTROENCEPHALOGRAPHY; FEMALE; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; FOLR1 GENE; GENE; GENE IDENTIFICATION; HOMOZYGOSITY; HUMAN; HYPERREFLEXIA; HYPOMYELINATION; HYPSARRHYTHMIA; INTRACTABLE EPILEPSY; MALE; MUSCLE HYPERTONIA; MYOCLONUS SEIZURE; MYOPIA; NEURO CUTANEOUS STIGMATA; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; SIBLING; UNSTEADY GAIT; ATROPHY; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CONSANGUINITY; DEFICIENCY; EARLY DIAGNOSIS; EPILEPSIES, MYOCLONIC; GENETICS; MISSENSE MUTATION; PATHOLOGY; POINT MUTATION; PRESCHOOL CHILD;

ATROPHY; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; EARLY DIAGNOSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FEMALE; FOLATE RECEPTOR 1; FOLIC ACID DEFICIENCY; HUMANS; LEUCOVORIN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; POINT MUTATION; PYRIDOXINE; SIBLINGS; TETRAHYDROFOLATES;

EID: 84907675617     PISSN: 13196138     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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