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
The Acquired Metabolic Disorders of the Nervous System, Hepatic Stupor and Coma (Hepatic, or Portal-Systemic Encephalopathy)
Adams & Victors Principles of Neurology Chp 40, pg 1142, Ropper, A.H.,et al, 2014
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Salt and Pepper Sign, PLNTY for Drug-Resistant Epilepsy
Neurol 100:791-795, Paredes-Aragon,E.M.,et al, 2023
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
A Teenager with Shortness of Breath and Difficulty Walking
Neurol 96:e2346-e2350, Liu, S.C.,et al, 2021
A 7-Year-Old Boy with Acute-Onset Altered Mental Status
Neurol 96:e2774-e2778, Wong, G.J.,et al, 2021
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
CASPR2 Autoimmunity in Children Expanding to Mild Encephalopathy with Hypertension
Neurol 94:e2290-e2301,953, Syrbe, S.,et al, 2020
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Surgery for Drug-Resistant Epilepsy in Children
NEJM 377:1639-1647, Dwivedi, R.,et al, 2017
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Clinical Radiologic Features of Encephalopathy during 2011 E Coli O111 outbreak in Japan
Neurol 82:564-572, Takanashi, J.,et al, 2014
Growth Hormone Treatment for Childhood Short Stature and Risk of Stroke in Early Adulthood
Neurol 83:780-786, Poidvin, a.,et al, 2014
Clinicopathologic Conference, Chronic Meningoencephalitis Consistent with Rasmussens Encephalitis
NEJM 371:1737-1746, Case 34-2014, 2014
Acute Myopia and Angle Closure Glaucoma from Topiramate in a Seven-Year-Old: A Case Report and Review of the Literature
BMC Pediatrics 14:96, Rapoport, Y.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
The Acquired Metabolic Disorders of the Nervous System, Hashimoto Encephalopathy (Steroid Responsive Encephalopathy Syndrome)
Adams & Victors Principles of Neurology Chp 40, pg 1155, Ropper, A.H.,et al, 2014
Diagnosis of Lambert-Eaton Myasthenic Syndrome in Children
Neurol 80:e220-e222, Morgan-Followell,B.& de los Reyes,E., 2013
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Efficacy and Safety of Ketamine in Refractory Status Epilepticus in Children
Neurol 79:2355-2358, Rosati, A.,et al, 2012
Brain Abnormalities in Neuromyelitis Optica Spectrum Disorder
Multiple Sclerosis International ID 735486, Kim, W.,et al, 2012
The Frequency of Autoimmune N-Methyl-D-Aspartate Receptor Encephalitis Surpasses That of Individual Viral Etiologies in Young Individuals Enrolled in the California Encephalitis Project
Clin Inf Dis 54:899-904, Gable, M.S.,et al, 2012
Nonconvulsive Seizures are Common in Critically Ill Children
Neurol 76:1071-1074, Abend,N.S.,et al, 2011
VGKC antibodies in pediatric encephalitis presenting with status epilepticus
Neurology 76:1252-1255, Suleiman, J.,et al, 2011
Encephalitis Associated with Glutamic Acid Decarboxylase Autoantibodies in a Child A Treatable Condition?
Arch Neurol 68:1065-1068, Korff, C.M.,et al, 2011
Randomized Trial of Adjunctive Topiramate Therapy in Infants with Refractory Partial Seizures
Neurol 74:714-720, Novotny,E.,et al, 2010
Clinicopath Conf., Atypical Hemolytic-Uremic Syndrome
NEJM 361:389-400, Case 23-2009, 2009
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Pediatric Encephalitis: What Is the Role of Mycoplasma Pneumoniae
Pediatrics 120:305-313, Christie,L.J., et al, 2007
Epilepsy in Children
Lancet 367:499-524, Guerrini,R., 2006
Efficacy and Safety of Intranasal Lorazepam Versus Intramuscular Paraldehyde for Protracted Convulsions in Children: An Open Randomised Trial
Lancet 367:1591-1597,1555, Ahmad,S.,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
The Frequency of Intractable Seizures After Stopping AEDs in Seizure-Free Children With Epilepsy
Neurol 64:973-975, Camfield,P & Camfield,C., 2005
Ictal Cardiorespiratory Arrest in Panayiotopoulos Syndrome
Neurol 64:1816-1817, Verrotti,A.,et al, 2005