Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Adults with Cerebral Palsy Require Ongoing Neurologic Care
Ann Neurol 89:860-871, Smith, S.E.,et al, 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
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Neurological Manifestations of Scrub Typhus
JNNP 86:761-766, Misra, U.K.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Herpes Simplex Virus Encephalitis:Clinical Manifestations,Diagnosis and Outcome in 106 Adult Patients
J Clin Virol 60:112-118, Sili,U.,et al, 2014
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Cortical Pathology in Multiple Sclerosis Patients with Epilepsy: A 3 Year Longitudinal Study
JNNP 83:49-54, Calabrese, M.,et al, 2012
Pediatric Neurological Complications of 2009 Pandemic Influenza A (H1N1)
Arch Neurol 68:455-462, Kedia, S.,et al, 2011
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011
Reversible Cerebral Vasoconstruction Syndromes
Arch Neurol 68:1005-1012,976, Singhal, A.B.,et al, 2011
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Neonatal Cerebral Sinovenous Thrombosis From Symptom to Outcome
Stroke 41:1382-1388, Berfelo,F.J., et al, 2010
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
Voltage-gated Potassium Channel-associated Limbic Encepahlitis in the West of Scotland:Case Reports and Literature Review
Scott Med J 54:27-31, Reid,J.M.,et al, 2009
Reversible Cerebral Vasoconstriction Syndrome
Pract Neurol 9:256-267, Ducros,A. &Bousser,M.-G., 2009
Treatment of Physicians With Epilepsy
Neurol 69:1374-1379, Allen,J.W. &Devinsky,O., 2007
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Long-Term Prognosis in Children With Neonatal Seizures: A Population-Based Study
Neurol 69:1816-1822, Ronen,G.M.,et al, 2007
Primary Central Nervous System Vasculitis: Analysis of 101 Patients
Ann Neurol 62:442-451,430, Salvarani,C.,et al, 2007
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Course and Outcome of Acute Limbic Encephalitis With Negative Voltage-Gated Potassium Channel Antibodies
JNNP 78:391-394, Samarasekera,S.R., et al, 2007
Community-Acquired Bacterial Meningitis in Adults
NEJM 354:44-53, van de Beek,D.,et al, 2006
Cerebral Sinovenous Thrombosis in the Neonate
Arch Neurol 63:405-409, Fitzgerald,K.C.,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
Potentially Reversible Autoimmune Limbic ncephalitis with Neuronal Potassium Channel Antibody
Neurol 62:1177-1182,1040, Thieben,M.J.,et al, 2004
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Cerebral Infarctin in the Term Newborn: Clinical Presentation and Long-Term Outcome
J Pediatr 137:351-355, Sreenan,C. et al, 2000
Gray Matter Heterotopia
Neurol 55:1603-1608, Barkovich,A.J. & Kuzniecky,R.I., 2000
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Subdural Haemorrhages in Infants:Population Based Study
BMJ 317:1558-1561,1538, Jayawant,S.,et al, 1998
Management Issues for Women with Epilepsy,A Review of the Literature
Neurol 51:949-956, Zahn,C.A.,et al, 1998