Predictors of Recurrent Febrile Seizures
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Cavernous Maliformations of the Central Nervous System
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Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Anticonvulsant Hypersensitivity Syndrome
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Vascular Malformations of the Central Nervous System
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Recurrent Cerebral Ischemia During Pregnancies
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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Cranial Cavernous Malformations
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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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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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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 Case of Refractory Nocturnal Seizures
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Paroxysmal Kinesigenic Dyskinesia
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Intracranial Neoplasms and Paraneoplastic Disorders, Meningioma
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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Extending the KCNQ2 encephalopathy Spectrum
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy
Neurol 79:2349-2354, Morita, M.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
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Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
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Seizures on Hearing the Alarm Clock
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
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Recurrent Acroparaesthesia During Febrile Infections
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Clinical Correlations of Mutations in the SCN1A Gene: From Febrile Seizures to Severe Myoclonic Epilepsy in Infancy
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Familial Temporal Lobe Epilepsy with Febrile Seizures
Neurol 58:1429-1433, Depondt,C.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
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Angiographic and Clinical Characteristics of Patients with Cerebral Arteriovenous Malformations Associated with Hereditary Hemorrhagic Telangiectasia
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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Adult-Onset MELAS Presenting as Herpes Encephalitis
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
Ann Neurol 46:671-678, Peiffer,A.,et al, 1999
Genetic Localization of the Familial Adult Myoclonic Epilepsy (FAME) Gene to Chromosome 8q24
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