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Neonatal Seizures
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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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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 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
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Sturge-Weber Syndrome
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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
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
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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Disease-Modifying Therapies for Alzheimer Disease: Challenges to Early Intervention
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
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Neuroimaging and Early Diagnosis of Alzheimer Disease: A Look to the Future
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Progressive Aphasia with Rapidly Progressive Dementia in a 49 Year Old Woman
JNNP 66:238-243, Greene,J.D.W.,et al,, 1999
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
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Functional Magnetic Resonance Imaging in Neuropsychiatry
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Dipsticks and Convulsions
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Dementia and Adult-Onset Unprovoked Seizures
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Twinning and Neurologic Morbisity
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Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
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A Clinical Study of Noonan Syndrome
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Benign Familial Neonatal Convulsions:Evidence for Clinical and Genetic Heterogeneity
Ann Neurol 29:469-473, Ryan,S.G.,et al, 1991
Advanced Alzheimer's Disease is a Risk Factor for Late-Onset Seizures
Arch Neurol 47:847-850, Romanelli,M.F.,et al, 1990
Epilepsy Octet, Epidemiology, Classification, Natural History, and Genetics of Epilepsy
Lancet 336:93-96, Shorvon,S.D., 1990
CT in Ceroid Lipofuscinosis
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Benign Versive or Circling Epilepsy with Bilateral 3-Cps Spike- & -Wave Discharges in Late Childhood
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
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Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
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Clinical Neuropathological Conference
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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
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Cavernous Maliformations of the Central Nervous System
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Vascular Malformations of the Central Nervous System
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
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