Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Unexplained Seizures in an Infant
Lancet 373:94, Astuto,M.,et al, 2009
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
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
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
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
Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
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
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Visual Impairment in Children with Epilepsy Treated with Vigabatrin
Ann Neurol 48:60-64, Gross-Tsur,V. et al, 2000
An Infant with Encephalitis
Lancet 350:1594, Yeung,W.L.,et al, 1997
Acute Isoniazide Neurotoxicity in an Urban Hospital
Pediatrics 94:700-704, Shah,B.R.,et al, 1995
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Clinical Uses of Intravenous Immunoglobulins
Ann Int Med 112:278-292, Berkman,S.A.,et al, 1990
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Unpacking the CNS Manifestations of Epstein-Barr Virus:An Imaging Perspective
AJNR 44:1002-1008, Soni,N.,et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Vagus Nerve Stimulation and Seizure Outcomes in Pediatric Refractory Epilepsy
Neurol 96:1041-1051, Jain, P. & Arya, R., 2021
When Should a Brain MRI Be Performed in Children with New-Onset Seizures? Results of a Large Prospectice Trial
AJNR 42:1645-1701, Hourani, R.,et al, 2021
An 11-year-old girl with focal seizures, fevers, and unilateral, enhancing cortical lesions
Neurol 95:e3153-e3159, Russ, J.B.,et al, 2020
Efficacy and Safety of Adjunctive Lacosamide in the Treatment of Primary Generalised Tonic-Clonic Seizures: A Double-Blind, Randomised, Placebo-Controlled Trial
JNNP 91:1067-1075, Vossler, D.G.,et al, 2020
Distinctive Imaging in a Paucisymptomatic Child with Leukodystrophy
Neruol 91:e1368-e1369, Sharawat, I.K.,et al, 2018
Childhood Seizures After Phototherapy
Pediatrics 142:e20180648, Newman, T.B.,et al, 2018
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
NEJM 377:1648-1656, Blumcke, I.,et al, 2017
Surgery for Drug-Resistant Epilepsy in Children
NEJM 377:1639-1647, Dwivedi, R.,et al, 2017
Clinicopathologic Conference, CAT Scratch Disease (Encephalopathy Associated with Bartonella Henselae)
NEJM 372:2050-2058, Case 16-2015, 2015
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Evidence-Based Guideline Update: Vagus Nerve Stimulation for the Treatment of Epilepsy
Neurol 81:1453-1459, Morries, G.L.,et al, 2013
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
Efficacy and Safety of Ketamine in Refractory Status Epilepticus in Children
Neurol 79:2355-2358, Rosati, A.,et al, 2012
Central Nervous System Herpes Simplex Virus Infection in Afebrile Children with Seizures
J Child Neurol 27:445-450, Majumdar,L.,et al, 2012
New-Onset Aferbrile Seizures in Infants: Role of Neuroimaging
Neurol 74:150-158, Hsieh,D.,et al, 2010
Ethosuximide, Valproic Acid, and Lamotrigine in Childhood Absence Epilepsy
NEJM 362:790-799, Glauser,T.A.,et al, 2010
Prospective Study of New-Onset Seizures Presenting as Status Epilepticus in Childhood
Neurol 74:636-642, 624, Singh,R.K.,et al, 2010
Randomized Trial of Adjunctive Topiramate Therapy in Infants with Refractory Partial Seizures
Neurol 74:714-720, Novotny,E.,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
Long-Term Mortality in Childhood-Onset Epilepsy
NEJM 363:2522-2529, Sillanp��,M. &Shinnar,S., 2010
Clinicopath Conf. Rickets Due to Vitamin D Deficiency
NEJM 360:398-407, Case 3-2009, 2009
Practice Parameter: Evaluation of the Child with Microcephaly (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 73:887-897, Ashwal,S.,et al, 2009