A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Prader-Willi and Angelman Syndromes
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Germinoma of third Ventricle (Case Record of MGH)
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Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Clinicopathologic Conference, LGI1 autoimmune encephalitis
NEJM 382:1943-1950, Case 15-2020, 2020
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Clnicopathologic Conference Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis
NEJM 379:870-878, CASE 27-2018, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Neuroimaging Changes in Menkes Disease, Part 1
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Neonatal Abstinence Syndrome
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Severe Acute Hyponatremia as an Initial Presentation of Acute Intermittent Porphyria Triggered by a Subdermal Etonogestrel Implant
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Recognizing Autoimmune-Mediated Encephalitis in the Differential Diagnosis of Limbic Disorders
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Molybdenum Cofactor Deficiency
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The Acquired Metabolic Disorders of the Nervous System, Hyponatremia and Syndrome of Inappropriate Antidiuretic Hormone
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Cognitive Delay in a 7-year-old Girl
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Megaloencephalic Leukoencephalopathy With Subcortical Cysts (Van der Knaap Disease)
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Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
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Autoimmune encephalitis
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Initial Management of Epilepsy
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Post-Transplant Acute Limbic Encephalitis: Clinical Features and Relationship to HHV6
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Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
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Duloxetine-induced Syndrome of Inappropriate Antidiuretic Hormone Secretion and Seizures
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Thrombosis of the Cerebral VEins and Sinuses
NEJM 352:1791-1798, Stam,J., 2005
Clinicopath Conf., MELAS Syndrome
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Central Nervous System Manifestations of Mycoplasma Pneumoniae Infections
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The New Antiepileptic Drugs, Clinical Applications
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The United Kingdom Infantile Spasms Study Comparing Vigabatrin with Prednisolone or Tetracosactide at 14 Days: A Multicentre, Randomised Controlled Trial
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Potassium Channel Antibody-Associated Encephalopathy: A Potentially Immunotherapy-Responsive Form of Limbic Encepahlitis
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Mutations in the Molybdenum Cofactor Biosynthetic Genes MOCS1, MOCS2, and GEPH
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Treatment of Women with Epilepsy
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Management Issues for Women with Epilepsy,A Review of the Literature
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Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
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Long-term Prognosis in Cerebral Venous Thrombosis:Follow-up of 77 Patients
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The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
TORCH Infections in the Newborn
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Epilepsy and Pregnancy
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Polycystic Ovaries and Hyperandrogenism in Women Taking Valproate for Epilepsy
NEJM 329:1383-1388, Isojarvi,J.I.T.,et al, 1993