Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Epilepsy in Children
Lancet 367:499-524, Guerrini,R., 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Multiple Sclerosis in Children Under 6 Years of Age
Neurol 53:478-484, Ruggieri,M.,et al, 1999
Epilepsy in Young People:23 Year Follow Up of the British National Child Development Study
BMJ 316:339-342, Kurtz,Z.,et al, 1998
Temporal Lobe Epilepsy in Childhood:Clin, EEG, & Neuroimag Findings & Synd Class in a Cohort with New-Onset Szres
Neurol 49:960-968, Harvey,A.S.,et al, 1998
Antiepileptic Drugs
NEJM 334:168-175, Brodie,M.J.&Dichter,M.A., 1996
Discontinuation of Anticonvulsant Therapy in Children Free of Seizures for 1 Year:A Prospective Study
Neurol 46:969-974, Dooley,J.,et al, 1996
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Cat Scratch Disease, Acute Encephalopathy & Other Neurologic Manifestations
Am J Dis Child 145:98-101, Carithers,H.A.&Margileth,A.M., 1991
Defective Glucose Transport Across the Blood-Brain Barrier as Cause of Hypoglycorrhachia, Seizures, and Devel Delay
NEJM 325:703-709, 7311991., DeVivo,D.C.,et al, 1991
Childhood Epileptic Syndromes
Lancet 336 486-488, Wallace,S.J., 1990
Neurological Manifestations in Three German Children with AIDS
Neuropediatrics 18:99-106, Biggemann,B.,et al, 1987
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Epilepsies of Infancy & Childhood
Ann Neurol 13:113-124, Gomez,M.R.,et al, 1983
Epilepsy in Children
Current Therapy, 1966, p. 574., Scholl,M.L., 1966
The Diagnosis & Treatment of Seizures
Pediatr Clin North Am 9:353, Scholl,M.L., 1962