Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Clinicopath Conf. Rickets Due to Vitamin D Deficiency
NEJM 360:398-407, Case 3-2009, 2009
Epilepsy, Broken Bones, and Fatty Stools
Lancet 355:1882, Drenth,J.P.H.,et al, 2000
Vitamin B6 Deficiency Presenting with New-Onset Epilepsy and Status Epilepticus in a Patient with Parkinson Disease
Neurol 94:e2605-e2607, Modica, J.S.,et al, 2020
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016
Diseases of the Nervous System Caused by Nutritional Deficiency, Pyridoxine (Vitamin B6 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1171, Ropper, A.H.,et al, 2014
Alcohol and Alcoholism
Adams & Victors Principles of Neurology Chp 42, pg 1186, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
Stroke 42:1158-1192, Saposnik,G.,et al, 2011
Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
The Neurological Complications of Bariatric Surgery
Arch Neurol 61:1185-1189, Berger,J.R., 2004
Symptoms of B12 Deficiency Can Occur in Women of Child Bearing Age Supplemented with Folate
Neurol 58:1572-1573, Drazkowski,J.,et al, 2002
Neurological Complications of Coeliac Disease
Postgrad Med J 78:393-398, Tengah, D.S.N.A.,et al, 2002
Marchiafava-Bignami Disease
Merrit's Neurology, L.P. Rowland Ed., Lippincott, Phila.:792, Miller,J.R., 2000
Coma From Long-Term Overingestion of Isoniazid
Arch Int Med 157:2518-2520, Salkind,A.R.&Hewitt,C.C., 1997
Bilateral Occipital Calcification Associated with Celiac Disease, Folate Deficiency & Epilepsy
AJNR 16:1498-1500, Lea,M.E.,et al, 1995
Reduced GABA Synthesis in Pyridoxine-Dependent Seizures
Lancet 343:1133-1134, Gospe,S.M.,et al, 1994
Cortical Vascular Abnor in Synd of Celiac Disease, Epilepsy, Bilateral Occipital Calc, & Folate Deficiency
Ann Neurol 34:399-403, Bye,A.M.E.,et al, 1993
Postneonatal Vitamin B6-Dependent Epilepsy
Pediatr 90:221-223, Coker,S.B., 1992
Reversal of Prolonged Isoniazid-Induced Coma by Pyridoxine
Arch Int Med 150:1751-1753, Brent,J.,et al, 1990
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Pyridoxine-Dependency Seizure:Report of a Rare Presentation
Ann Neurol 13:103-104, Krishnamoorthy,K.S., 1983
Serum Folate Concentra. During Pregnancy in Women with Epilepsy:Relation to Antiepileptic Drug Concentrations
BMJ 287:577-579, Hiilesmaa,V.K.,et al, 1983
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
Vitamin B-6-Dependent Seizures:Pathology & Chemical Findings in Brain
Neurol 28:47, Lott,I.T.,et al, 1978
Plasma Anticonvulsant Concentrations During Pregnancy
Neurol 27:128, Lander,C.M.,et al, 1977
Neurological Disorders & Adult Coeliac Disease
Gut 11:549, Morris,J.S.,et al, 1970
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
CLOVES Syndrome
Neurol 96:e1487-e1488, Collins, M.,et al, 2021
Cerebral Venous Thrombosis
NEJM 385:59-64, Ropper, A.H. & Kline, J.P., 2021
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 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
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017