Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
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
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Seizures When Exiting a Bath, A Rare Type of Reflex Epilepsy
Neurol 103:e210025, Pascarella,A.,et al, 2024
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Unpacking the CNS Manifestations of Epstein-Barr Virus:An Imaging Perspective
AJNR 44:1002-1008, Soni,N.,et al, 2023
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
Neuroimaging Findings in Parechovirus Encephalitis: A Case Series of Pediatric Patients
Pediatr Neurol 130:41-45, Tierradentro-Garcia, L.O.,et al, 2022
Clinical Manifestations and Diagnosis of Listeria Monocytogenes Infection
UptoDate Aug, Gelfand, M.S.,et al, 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
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
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
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Anti-NMDAR Encephalitis Presenting as Stroke-Like Episodes in Children: A Case Series from a Tertiary Care Referral Centre from Southern India
J Pediatr Neurosci 16:194-198, Gowda,V.K.,et al, 2021
Clinicopathologic Conference, LGI1 autoimmune encephalitis
NEJM 382:1943-1950, Case 15-2020, 2020
FDA Approves Fenfluramine for Treatment of Seizures Associated with Dravet Syndrome
FDA June2020, , 2020
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
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
A Middle-Aged Man with New Onset Seizures and Myoclonic Jerks
Neurol 92:e274-e281, Chen, Z. & Neo, S., 2019
Acute Maternal Confusion and Neonatal Seizure Postpartum
BMJ 364:k5399, Jakes, A.D.,et al, 2019
Recurrent Involuntary Contractions of the Face, Arm, and Leg in an Elderly Man
JAMA Neurol 76:728-729, Kim, D.D.,et al, 2019
Reversible Cerebral Vasoconstriciton Syndrome
www.UptoDate.com, June, Singhal, A., 2019
Human Parechovirus Meningoencephalitis: Neuroimaging in the Era of Polymerase Chain Reaction-Based Testing
AJNR 40:1418-1421, Sarma, A.,et al, 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Anti-LG11 Limbic Encephalitis Presenting as an Expanding Insular Lesion
Can J Neuro Sci 46:770-772, Sitwell,L.D.,et al, 2019
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
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 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
Human Parechovirus: An Increasingly Recognized Cause of Sepsis-Like Illness in Young Infants
Clin Microbiol Reviews 31:1-17, Olijve, L.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
NEJM 377:1648-1656, Blumcke, I.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome
NEJM 376:2011-2020, Devinsky, O.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Clinicopathologic Conference, CAT Scratch Disease (Encephalopathy Associated with Bartonella Henselae)
NEJM 372:2050-2058, Case 16-2015, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Drug Treatment of Epilepsy in Adults
BMJ 348:g2546, Schmidt, D. & Schachter, S.C., 2014
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014