Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
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
An 11-year-old girl with focal seizures, fevers, and unilateral, enhancing cortical lesions
Neurol 95:e3153-e3159, Russ, J.B.,et al, 2020
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
Clinicopathologic Conference, CAT Scratch Disease (Encephalopathy Associated with Bartonella Henselae)
NEJM 372:2050-2058, Case 16-2015, 2015
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
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
Clinical Reasoning: Seizures in a Child With Sensorineural Deafness and Agitation
Neurol 74:e61-e63, Auvin,S., et al, 2010
Clinical Reasoning: A 9-year-old Girl With Seizures and Encephalopathy
Neurol 74:e97-e100, Nguyen,T.P. &El-Hakam,L.M., 2010
Clinicopath Conf. Rickets Due to Vitamin D Deficiency
NEJM 360:398-407, Case 3-2009, 2009
Unexplained Seizures in an Infant
Lancet 373:94, Astuto,M.,et al, 2009
Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
Prognosis of Children With Partial Epilepsy: MRI and Serial 18FDG-Pet
Neurol 68:665-659, Gaillard,W.D.,et al, 2007
Practice Parameter: Diagnostic Assessment of the Child with Status Epilepticus (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the practice Committee of the Child Neurology Society
Neurol 67:1542-1550, Riviello,J.J. Jr.,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
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
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
An Infant with Encephalitis
Lancet 350:1594, Yeung,W.L.,et al, 1997
Antiepileptic Drugs
NEJM 334:168-175, Brodie,M.J.&Dichter,M.A., 1996
The Use of Parenteral Antiepileptic Drugs & The Role of Fosphenytoin
(Suppl Editor) , Neurol 46:S1-S2896., Wilder,B.J., 1996
Status Epilepticus in Children with Epilepsy:The Role of Antiepileptic Drug Levels in Prevention
Pediatrics 98:1119-1121, Maytal,J.,et al, 1996
The Landau-Kleffner Syndrome
Arch Dis Child 72:386-387, Appleton,R.E., 1995
Efficacy of Felbamate in Childhood Epileptic Encephalopathy (Lennox-Gestaut Syndrome)
Felbamate Study Group in Lennox-Gestaut Synd, NEJM 328:29-331993., , 1993
Treatment of Convulsive Status Epilepticus
Recommendations of the Epilepsy Foundation of America's Working Group on Status Epilepticus, JAMA 27, :54-859,1993., 1993
The Landau-Kleffner Syndrome or Acquired Aphasia with Convulsive Disorder
Arch Neurol 49:354-359, 3531992., Paquier,P.F.,et al, 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Rasmussen's Encephgalitis:Neuroimaging Findings in Four Patints
AJR 158:1329-1332, Tien,R.D.,et al, 1992
Clinicopath Conf
Cat-Scratch Disease, with Encephalopathy, Case 22-1992, NEJM 326:1480-148992., , 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Cat Scratch Disease, Acute Encephalopathy & Other Neurologic Manifestations
Am J Dis Child 145:98-101, Carithers,H.A.&Margileth,A.M., 1991
Etiology and Mortality of Status Epilepticus in Children, A Recent Update
Arch Neurol 46:74-76, Phillips,S.A.&Shanahan,R.J., 1989