FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Updates on Sturge-Weber Syndrome
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Distinctive Imaging in a Paucisymptomatic Child with Leukodystrophy
Neruol 91:e1368-e1369, Sharawat, I.K.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
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Ethosuximide, Valproic Acid, and Lamotrigine in Childhood Absence Epilepsy
NEJM 362:790-799, Glauser,T.A.,et al, 2010
Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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Neuroradiological Manifestations of Focal Polymorphic Delta Activity in Children
Arch Neurol 50:181-184, Maytal,J.,et al, 1993
Oligoantigenic Diet Treatment of Children with Epilepsy and Migraine
J Pediatr 114:51-58, Egger,J.,et al, 1989
Psychologic & Behavioral Effects of Antiepileptic Drugs in Children:Comparison of Phenobarb & Valproic Acid
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Phenobarbital Treatment & Major Depressive Disorder in Children with Epilspey
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