Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
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
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
A 35-Year-Old Bricklayer with Hemimyoclonic Jerks
Lancet 351:1926, Grunewald,T.,et al, 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Epilepsy Octet, Epidemiology, Classification, Natural History, and Genetics of Epilepsy
Lancet 336:93-96, Shorvon,S.D., 1990
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Initial Management of Seizure in Adults
NEJM 385:251-263, Smith, P.E.M., 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Reversible Cerebral Vasoconstriciton Syndrome
www.UptoDate.com, June, Singhal, A., 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
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
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Antibiotic-Associated Encephalopathy
Neurol 86:963-971, Bhattacharyya, S.,et al, 2016
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
Resective Epilepsy Surgery for Drug-Resistant Focal Epilepsy
JAMA 313:285-293, Jobst, B.C. & Cascino, G.D., 2015
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
A 72-year-old Man with Rapid Cognitive Decline and Unilateral Muscle Jerks
Neurol 82:e194-e197, Duncan, M.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Creutzfeldt-Jakob Disease (Subacute Spongiform Encephalopathy)
Adams & Victors Principles of Neurology, Chp 33, pg 769, Ropper, A.H.,et al, 2014
Paraneoplastic Neurological Syndromes
Clin Exp Immunol 175:336-348, Leypoldt, F. & Wandinger, K.-P., 2014
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Subacute Sclerosing Panencephalitis
www.MedLink.com, February, Auwaeter,P.G.&Johnson,R.T., 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Cerebral Amyloid Angiopathy
eMedicine, Jan, Menon, R.S., 2012
Variable Presentations of Postpartum Angiopathy
Stroke 43:670-676, Fugate,J.E.,et al, 2012
Radiosurgery for Unruptured Cerebral Arteriovenous Malformations
Neurol 78:1292-1298, Yang,S.Y.,et al, 2012
Subdural empyema in bacterial meningitis
Neurol 79:2133-2139, Jim, K.,et al, 2012
MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy
Neurol 79:2349-2354, Morita, M.,et al, 2012
Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011
Treatment of Severe Neurological Deficits with IgG Depletion through Immunoadsorption in Patients with Escherichia coli O104:H4-Associated Haemolytic Uraemic Syndrome: A Prospective Trial
Lancet 378:1166-1173,1120, Greinacher, A.,et al, 2011
Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
Neurosurg Focus 29:E7, Washington,C.W.,et al, 2010
Subacute sclerosing panencephalitis: An Update
Dev Med Child Neurol 52:901-907, Guitierrez, J.,et al, 2010