Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
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
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
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
Long-Term Mortality in Childhood-Onset Epilepsy
NEJM 363:2522-2529, Sillanp��,M. &Shinnar,S., 2010
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
Neurol 73:887-897, Ashwal,S.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Death in Children With Febrile Seizures: A Population-Based Cohort Study
Lancet 372:457-463,429, Vestergaard,M.,et al., 2008
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
Ictal Cardiorespiratory Arrest in Panayiotopoulos Syndrome
Neurol 64:1816-1817, Verrotti,A.,et al, 2005
Clinical Correlations of Mutations in the SCN1A Gene: From Febrile Seizures to Severe Myoclonic Epilepsy in Infancy
Pediatr Neurol 30:236-243, Ceulemans,B.P.G.M.,et al, 2004
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Prolonged Treatment for Acute Symptomatic Refractory Status Epilepticus
Neurol 61:398-401, Sahin,M.,et al, 2003
Death in Children with Epilepsy: A Population-based Study
Lancet 359:1891-1985, Camfield,C.S.,et al, 2002
Sudden Death in Epilepsy: A Wake-up Call for Management
Lancet 359:1790-1791, Pedley, T.A. &Hauser,W.A., 2002
Sudden Unexplained Death in Children With Epilepsy
Neurol 57:430-434, Donner,E.J.,et al, 2001
Tonic Seizures are a Particular Risk Factor for Drowning in People with Epilepsy
BMJ 321:975-976, Besag,F.M.C., 2000
A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
Ann Neurol 46:671-678, Peiffer,A.,et al, 1999
Epilepsy in Young People:23 Year Follow Up of the British National Child Development Study
BMJ 316:339-342, Kurtz,Z.,et al, 1998
Long-Term Prognosis of Seizures with Onset in Childhood
NEJM 338:1715-1722, Sillanpaa,M.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Why Would You Remove Half a Brain? Outcome of 58 Children after Hemispherectomy-Johns Hopkins 1968-96
Pediatrics 100:163-171, Vining,E.P.G.,et al, 1997
An Infant with Encephalitis
Lancet 350:1594, Yeung,W.L.,et al, 1997
Brief Report:Organic Osmolytes in the Brain of an Infant with Hypernatremia
NEJM 331:439-442, Lee,J.H.,et al, 1994
Treatment of Convulsive Status Epilepticus
Recommendations of the Epilepsy Foundation of America's Working Group on Status Epilepticus, JAMA 27, :54-859,1993., 1993
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Epilepsy in the First 10 Years of Life:Findings of the Child Health & Education Study
BMJ 305:857-861, Verity,C.M.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Low Morbidity and Mortality of Status Epilepticus in Children
Pediatrics 83:323-331, Maytal,J.,et al, 1989
Status Epilepticus:It's Not What We've Thought or Taught
Pediatrics 83:444-445, Freemen,J.M., 1989
Etiology and Mortality of Status Epilepticus in Children, A Recent Update
Arch Neurol 46:74-76, Phillips,S.A.&Shanahan,R.J., 1989
CT in Ceroid Lipofuscinosis
Neurol 37:1025-1026, Dunn,D.W., 1987
Benign Versive or Circling Epilepsy with Bilateral 3-Cps Spike- & -Wave Discharges in Late Childhood
Ann Neurol 19:301-303, Gastaut,H.,et al, 1986
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985