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Publications

Mefford HC, Cook J, Gospe SM Jr
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
American journal of medical genetics. Part A , 2012 Dec: 158A(12)3190-5
Quintana A, Sanz E, Wang W, Storey GP, Güler AD, Wanat MJ, Roller BA, La Torre A, Amieux PS, McKnight GS, Bamford NS, Palmiter RD
Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors.
Nature neuroscience , Nov. 2012: 15(11)1547-55
Wang W, Nitulescu I, Lewis JS, Lemos JC, Bamford IJ, Posielski NM, Storey GP, Phillips PE, Bamford NS
Overinhibition of corticostriatal activity following prenatal cocaine exposure.
Annals of neurology , Nov. 2012
van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Molecular genetics and metabolism , 2012 Nov: 107(3)335-44
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S, Simons VIP Consortium, 16p11.2 European Consortium
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Journal of medical genetics , 2012 Oct: 49(10)660-8
Gospe SM Jr
Natural history of pyridoxine-dependent epilepsy: tools for prognostication.
Developmental medicine and child neurology , 2012 Sep: 54(9)781-2
Wang W, Dever D, Lowe J, Storey GP, Bhansali A, Eck EK, Nitulescu I, Weimer J, Bamford NS
Regulation of prefrontal excitatory neurotransmission by dopamine in the nucleus accumbens core.
The Journal of physiology , Aug. 2012: 590(Pt 16)3743-69
Simons Vip Consortium
Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.
Neuron , 2012 Mar 22: 73(6)1063-7
Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
American journal of human genetics , 2012 Mar 9: 90(3)457-66
Russell P. Saneto, DO, PhD
Craig AK, Sotero de Menezes M, Saneto RP
Seizure , 2012: 17-21
Parker JG, Wanat MJ, Soden ME, Ahmad K, Zweifel LS, Bamford NS, Palmiter RD
Attenuating GABA(A) receptor signaling in dopamine neurons selectively enhances reward learning and alters risk preference in mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience , Nov. 2011: 31(47)17103-12
Thall PF, Szabo A, Nguyen HQ, Amlie-Lefond CM, Zaidat OO
Optimizing the concentration and bolus of a drug delivered by continuous infusion.
Biometrics , 2011 Dec: 67(4)1638-46
Thall PF, Szabo A, Nguyen HQ, Amlie-Lefond CM, Zaidat OO
Optimizing the concentration and bolus of a drug delivered by continuous infusion.
Biometrics , 2011 Dec: 1638-46
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Molecular genetics and metabolism , 2011 Sep-Oct: 104(1-2)48-60
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Molecular genetics and metabolism , 2011 Sep-Oct: 48-60
Segal EB, Grinspan ZM, Mandel AM, Gospe SM Jr
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy.
Pediatric neurology , April 2011: : 289-91
Beutler LR, Wanat MJ, Quintana A, Sanz E, Bamford NS, Zweifel LS, Palmiter RD
Balanced NMDA receptor activity in dopamine D1 receptor (D1R)- and D2R-expressing medium spiny neurons is required for amphetamine sensitization.
Proceedings of the National Academy of Sciences of the United States of America , March 2011: 108(10)4206-11
Amlie-Lefond C, Zaidat OO, Lew SM
Moyamoya disease in early infancy: case report and literature review.
Pediatric neurology , 2011 Apr: 44(4)299-302
Amlie-Lefond C, Zaidat OO, Lew SM
Moyamoya disease in early infancy: case report and literature review.
Pediatric neurology , 2011 Apr: 299-302
Killory BD, Bai X, Negishi M, Vega C, Spann MN, Vestal M, Guo J, Berman R, Danielson N, Trejo G, Shisler D, Novotny EJ Jr, Constable RT, Blumenfeld H
Impaired attention and network connectivity in childhood absence epilepsy.
NeuroImage , 2011 Mar 21
Ichord RN, Bastian R, Abraham L, Askalan R, Benedict S, Bernard TJ, Beslow L, Deveber G, Dowling M, Friedman N, Fullerton H, Jordan L, Kan L, Kirton A, Amlie-Lefond C, Licht D, Lo W, McClure C, Pavlakis S, Smith SE, Tan M, Kasner S, Jawad AF
Interrater reliability of the Pediatric National Institutes of Health Stroke Scale (PedNIHSS) in a multicenter study.
Stroke; a journal of cerebral circulation , 2011 Mar: 42(3)613-7
Ichord RN, Bastian R, Abraham L, Askalan R, Benedict S, Bernard TJ, Beslow L, Deveber G, Dowling M, Friedman N, Fullerton H, Jordan L, Kan L, Kirton A, Amlie-Lefond C, Licht D, Lo W, McClure C, Pavlakis S, Smith SE, Tan M, Kasner S, Jawad AF
Interrater reliability of the Pediatric National Institutes of Health Stroke Scale (PedNIHSS) in a multicenter study.
Stroke; a journal of cerebral circulation , 2011 Mar: 613-7
Sidney M. Gospe, MD, PhD
Pyridoxine-dependent epilepsy
S Shorvon, R Guerrini, F. Andermann (Eds.) The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children , 2011: 237-241
Russell P. Saneto, DO, PhD
Preserved interhemispheric functional connectivity in a case of corpus callosum agenesis.
Neuroradiology , 2011: (Epub ahead of print)
Russell P. Saneto, DO, PhD
Mutations in Pickle orthologs cause seizures in flies, mice, and humans.
Am J Med Genetics , 2011: 138-146
Wong MY, Sulzer D, Bamford NS
Imaging presynaptic exocytosis in corticostriatal slices.
Methods in molecular biology (Clifton, N.J.) , 2011: 793363-76
Martin ET, Kerin T, Christakis DA, Blume HK, Gospe SM Jr, Vinje J, Bowen MD, Gentsch J, Zerr DM
Redefining outcome of first seizures by acute illness.
Pediatrics , Dec. 2010: : e1477-84
Amlie-Lefond C, Gill JC
Pharmacology in childhood arterial ischemic stroke.
Seminars in pediatric neurology , 2010 Dec: 17(4)237-44
Amlie-Lefond C, Gill JC
Pharmacology in childhood arterial ischemic stroke.
Seminars in pediatric neurology , 2010 Dec: 237-44
Berman R, Negishi M, Vestal M, Spann M, Chung MH, Bai X, Purcaro M, Motelow JE, Danielson N, Dix-Cooper L, Enev M, Novotny EJ, Constable RT, Blumenfeld H
Simultaneous EEG, fMRI, and behavior in typical childhood absence seizures.
Epilepsia , 2010 Oct: 2011-22
Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM
Clinical and genetic characterization of manifesting carriers of DMD mutations.
Neuromuscular disorders : NMD , Aug. 2010: : 499-504
Amlie-Lefond C
Catheter angiogram in central nervous system vasculitis: still first among equals.
Developmental medicine and child neurology , 2010 Sep: 52(9)792
Amlie-Lefond C
Catheter angiogram in central nervous system vasculitis: still first among equals.
Developmental medicine and child neurology , 2010 Sep: 792
Gospe SM Jr
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.
Developmental medicine and child neurology , July 2010: : 602-3
Saneto RP, Singh KK
Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C.
Mitochondrion , 2010 Aug: 567-72
Weiss MD, Saneto RP
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
Muscle & nerve , 2010 Jun: 882-5
Friedman SD, Shaw DW, Ishak G, Gropman AL, Saneto RP
The use of neuroimaging in the diagnosis of mitochondrial disease.
Developmental disabilities research reviews , 2010 Jun: 129-35
Saneto RP, Naviaux RK
Polymerase gamma disease through the ages.
Developmental disabilities research reviews , 2010 Jun: 163-74
Shurtleff H, Warner M, Poliakov A, Bournival B, Shaw DW, Ishak G, Yang T, Karandikar M, Saneto RP, Browd SR, Ojemann JG
Functional magnetic resonance imaging for presurgical evaluation of very young pediatric patients with epilepsy.
Journal of neurosurgery. Pediatrics , 2010 May: 500-6
Lopez-Vicente M, Ortega-Gutierrez S, Amlie-Lefond C, Torbey MT
Diagnosis and management of pediatric arterial ischemic stroke.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association , 2010 May: 19(3)175-83
Lopez-Vicente M, Ortega-Gutierrez S, Amlie-Lefond C, Torbey MT
Diagnosis and management of pediatric arterial ischemic stroke.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association , 2010 May: 175-83
Bai X, Vestal M, Berman R, Negishi M, Spann M, Vega C, Desalvo M, Novotny EJ, Constable RT, Blumenfeld H
Dynamic time course of typical childhood absence seizures: EEG, behavior, and functional magnetic resonance imaging.
The Journal of neuroscience : the official journal of the Society for Neuroscience , 2010 Apr 28: 5884-93
Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, Wong LJ
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
Seizure : the journal of the British Epilepsy Association , 2010 Apr: 140-6
Amlie-Lefond C, Fullerton HJ
Rashes, sniffles, and stroke: a role for infection in ischemic stroke of childhood.
Infectious disorders drug targets , 2010 Apr: 10(2)67-75
Amlie-Lefond C, Fullerton HJ
Rashes, sniffles, and stroke: a role for infection in ischemic stroke of childhood.
Infectious disorders drug targets , 2010 Apr 1: 67-75
Zaveri HP, Pincus SM, Goncharova II, Novotny EJ, Duckrow RB, Spencer DD, Blumenfeld H, Spencer SS
Background intracranial EEG spectral changes with anti-epileptic drug taper.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology , 2010 Mar: 311-7
Gospe SM Jr
Neonatal vitamin-responsive epileptic encephalopathies.
Chang Gung medical journal , Jan. 2010: : 1-12
Nigel S. Bamford, MD
Alterations in Striatal Synaptic Function in Huntingtons and Parkinsons Diseases
In: Handbook of Basal Ganglia Structure and Function, a Decade of Progress , 2010: 607-623
Steinman KJ, Mostofsky SH, Denckla MB
Toward a narrower, more pragmatic view of developmental dyspraxia.
Journal of child neurology , Jan. 2010: 71-81
Goncharova II, Zaveri HP, Duckrow RB, Novotny EJ, Spencer SS
Spatial distribution of intracranially recorded spikes in medial and lateral temporal epilepsies.
Epilepsia , 2009 Dec: 2575-85
Sadilkova K, Gospe SM Jr, Hahn SH
Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.
Journal of neuroscience methods , Oct. 2009: : 136-41
Amlie-Lefond C, Jubelt B
Neurologic manifestations of varicella zoster virus infections.
Current neurology and neuroscience reports , 2009 Nov: 9(6)430-4
Amlie-Lefond C, Jubelt B
Neurologic manifestations of varicella zoster virus infections.
Current neurology and neuroscience reports , 2009 Nov: 430-4
Zaveri HP, Pincus SM, Goncharova II, Novotny EJ, Duckrow RB, Spencer DD, Spencer SS
A decrease in EEG energy accompanies anti-epileptic drug taper during intracranial monitoring.
Epilepsy research , 2009 Oct: 153-62
Strug LJ, Clarke T, Chiang T, Chien M, Baskurt Z, Li W, Dorfman R, Bali B, Wirrell E, Kugler SL, Mandelbaum DE, Wolf SM, McGoldrick P, Hardison H, Novotny EJ, Ju J, Greenberg DA, Russo JJ, Pal DK
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
European journal of human genetics : EJHG , 2009 Sep: 1171-81
Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
European journal of pediatrics , June 2009: : 697-704
Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia , May 2009: : 1167-75
Bamford NS, White KK, Robinett SA, Otto RK, Gospe SM Jr
Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A.
Developmental medicine and child neurology , May 2009: : 408-11
Bamford NS, White KK, Robinett SA, Otto RK, Gospe SM Jr
Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A.
Developmental medicine and child neurology , May 2009: 408-11
Amlie-Lefond C, deVeber G, Chan AK, Benedict S, Bernard T, Carpenter J, Dowling MM, Fullerton H, Hovinga C, Kirton A, Lo W, Zamel K, Ichord R, International Pediatric Stroke Study
Use of alteplase in childhood arterial ischaemic stroke: a multicentre, observational, cohort study.
Lancet neurology , 2009 Jun: 8(6)530-6
Amlie-Lefond C, deVeber G, Chan AK, Benedict S, Bernard T, Carpenter J, Dowling MM, Fullerton H, Hovinga C, Kirton A, Lo W, Zamel K, Ichord R, International Pediatric Stroke Study
Use of alteplase in childhood arterial ischaemic stroke: a multicentre, observational, cohort study.
Lancet neurology , 2009 Jun: 530-6
Saneto RP, Anderson GD
Onset of action and seizure control in Lennox-Gaustaut syndrome: focus on rufinamide.
Therapeutics and clinical risk management , 2009 Apr: 271-80
Amlie-Lefond C, Fullerton HJ
Thrombolytics for hyperacute stroke in children.
Pediatric hematology and oncology , 2009 Apr-May: 26(3)103-7
Amlie-Lefond C, Fullerton HJ
Thrombolytics for hyperacute stroke in children.
Pediatric hematology and oncology , 2009 Apr-May: 103-7
Steinman KJ, Gorno-Tempini ML, Glidden DV, Kramer JH, Miller SP, Barkovich AJ, Ferriero DM
Neonatal watershed brain injury on magnetic resonance imaging correlates with verbal IQ at 4 years.
Pediatrics , March 2009: 1025-30
Amlie-Lefond C, Bernard TJ, Sébire G, Friedman NR, Heyer GL, Lerner NB, DeVeber G, Fullerton HJ, International Pediatric Stroke Study Group
Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the International Pediatric Stroke Study.
Circulation , 2009 Mar 17: 119(10)1417-23
Amlie-Lefond C, Bernard TJ, Sébire G, Friedman NR, Heyer GL, Lerner NB, DeVeber G, Fullerton HJ, International Pediatric Stroke Study Group
Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the International Pediatric Stroke Study.
Circulation , 2009 Mar 17: 1417-23
Joshi PR, Wu NP, André VM, Cummings DM, Cepeda C, Joyce JA, Carroll JB, Leavitt BR, Hayden MR, Levine MS, Bamford NS
Age-dependent alterations of corticostriatal activity in the YAC128 mouse model of Huntington disease.
The Journal of neuroscience : the official journal of the Society for Neuroscience , Feb. 2009: 29(8)2414-27
Sidney M. Gospe, MD, PhD
Other organic chemicals
MR Dobbs (Ed.) Clinical Neurotoxicology: Syndromes, Substances, Environments , 2009: 415-420
Sidney M. Gospe, MD, PhD
Organic solvents
MR Dobbs (Ed.) Clinical Neurotoxicology: Syndromes, Substances, Environments , 2009: 401-414
Gospe SM Jr, Joyce JA, Siebert JR, Jack RM, Pinkerton KE
Exposure to environmental tobacco smoke during pregnancy in rats yields less effect on indices of brain cell number and size than does postnatal exposure.
Reproductive toxicology (Elmsford, N.Y.) , Jan. 2009: : 22-7
Pearl PL, Vezina LG, Saneto RP, McCarter R, Molloy-Wells E, Heffron A, Trzcinski S, McClintock WM, Conry JA, Elling NJ, Goodkin HP, de Menezes MS, Ferri R, Gilles E, Kadom N, Gaillard WD
Cerebral MRI abnormalities associated with vigabatrin therapy.
Epilepsia , 2009 Feb: 184-94
Nigel S. Bamford, MD
The Corticostriatal Pathway in Parkinsons Disease
In: Cortico-subcortical Dynamics in Parkinsons Disease , 2009: 87-104
Steinman K, Ross J, Lai S, Reiss A, Hoeft F
Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language.
Developmental disabilities research reviews , 2009: 295-308
Amlie-Lefond C, Chan AK, Kirton A, deVeber G, Hovinga CA, Ichord R, Stephens D, Zaidat OO, Thrombolysis in Pediatric Stroke (TIPS) Investigators
Thrombolysis in acute childhood stroke: design and challenges of the thrombolysis in pediatric stroke clinical trial.
Neuroepidemiology , 2009: 32(4)279-86
Amlie-Lefond C, Chan AK, Kirton A, deVeber G, Hovinga CA, Ichord R, Stephens D, Zaidat OO, Thrombolysis in Pediatric Stroke (TIPS) Investigators
Thrombolysis in acute childhood stroke: design and challenges of the thrombolysis in pediatric stroke clinical trial.
Neuroepidemiology , 2009: 279-86
Saneto RP, Friedman SD, Shaw DW
Neuroimaging of mitochondrial disease.
Mitochondrion , 2008 Dec: 396-413
Spencer SS, Goncharova II, Duckrow RB, Novotny EJ, Zaveri HP
Interictal spikes on intracranial recording: behavior, physiology, and implications.
Epilepsia , 2008 Nov: 1881-92
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Human mutation , 2008 Sep: E150-72
Whelan HT, Cook JD, Amlie-Lefond CM, Hovinga CA, Chan AK, Ichord RN, Deveber GA, Thall PF
Practical model-based dose finding in early-phase clinical trials: optimizing tissue plasminogen activator dose for treatment of ischemic stroke in children.
Stroke; a journal of cerebral circulation , 2008 Sep: 39(9)2627-36
Whelan HT, Cook JD, Amlie-Lefond CM, Hovinga CA, Chan AK, Ichord RN, Deveber GA, Thall PF
Practical model-based dose finding in early-phase clinical trials: optimizing tissue plasminogen activator dose for treatment of ischemic stroke in children.
Stroke; a journal of cerebral circulation , 2008 Sep: 2627-36
Kirton A, Chan AK, Amlie-Lefond C
Arterial ischemic stroke: experience in Chinese children.
Pediatric neurology , 2008 Aug: 39(2)142-3; author reply 143-4
Kirton A, Chan AK, Amlie-Lefond C
Arterial ischemic stroke: experience in Chinese children.
Pediatric neurology , 2008 Aug: 142-3; author reply 143-4
Bernard TJ, Goldenberg NA, Armstrong-Wells J, Amlie-Lefond C, Fullerton HJ
Treatment of childhood arterial ischemic stroke.
Annals of neurology , 2008 Jun: 63(6)679-96
Bernard TJ, Goldenberg NA, Armstrong-Wells J, Amlie-Lefond C, Fullerton HJ
Treatment of childhood arterial ischemic stroke.
Annals of neurology , 2008 Jun: 679-96
Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK
The in-depth evaluation of suspected mitochondrial disease.
Molecular genetics and metabolism , 2008 May: 16-37
Bamford NS, Zhang H, Joyce JA, Scarlis CA, Hanan W, Wu NP, André VM, Cohen R, Cepeda C, Levine MS, Harleton E, Sulzer D
Repeated exposure to methamphetamine causes long-lasting presynaptic corticostriatal depression that is renormalized with drug readministration.
Neuron , April 2008: 89-103
Amlie-Lefond C, Sébire G, Fullerton HJ
Recent developments in childhood arterial ischaemic stroke.
Lancet neurology , 2008 May: 7(5)425-35
Amlie-Lefond C, Sébire G, Fullerton HJ
Recent developments in childhood arterial ischaemic stroke.
Lancet neurology , 2008 May: 425-35
Amlie-Lefond CM, Basir MA, Franciosi RA
Fatal neonatal stroke from a prenatal cardiac thrombus.
Pediatric neurology , 2008 Feb: 38(2)140-2
Amlie-Lefond CM, Basir MA, Franciosi RA
Fatal neonatal stroke from a prenatal cardiac thrombus.
Pediatric neurology , 2008 Feb: 140-2
Holmes MD, Brown M, Tucker DM, Saneto RP, Miller KJ, Wig GS, Ojemann JG
Localization of extratemporal seizure with noninvasive dense-array EEG. Comparison with intracranial recordings.
Pediatric neurosurgery , 2008: 474-9
Riou EM, Amlie-Lefond C, Echenne B, Farmer M, Sébire G
Cerebrospinal fluid analysis in the diagnosis and treatment of arterial ischemic stroke.
Pediatric neurology , 2008 Jan: 38(1)1-9
Riou EM, Amlie-Lefond C, Echenne B, Farmer M, Sébire G
Cerebrospinal fluid analysis in the diagnosis and treatment of arterial ischemic stroke.
Pediatric neurology , 2008 Jan: 1-9
Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Cohen BH
Mitochondrial disease: a practical approach for primary care physicians.
Pediatrics , 2007 Dec: 1326-33
Miyagawa T, Sotero M, Avellino AM, Kuratani J, Saneto RP, Ellenbogen RG, Ojemann JG
Apnea caused by mesial temporal lobe mass lesions in infants: report of 3 cases.
Journal of child neurology , 2007 Sep: 1079-83
Arthur TM, Saneto RP, de Menezes MS, Devinsky O, Lajoie J, Murphy PJ, Cook WB, Ojemann JG
Vagus nerve stimulation in children with mitochondrial electron transport chain deficiencies.
Mitochondrion , 2007 Jul: 279-83
Saneto RP, Sotero de Menezes M
Persistence of suppression-bursts in a patient with Ohtahara syndrome.
Journal of child neurology , 2007 May: 631-4
Bouldin AA, Parisi MA, Laing N, Patterson K, Gospe SM Jr
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
Muscle & nerve , Feb. 2007: : 254-8
Dion MH, Novotny EJ Jr, Carmant L, Cossette P, Nguyen DK
Lamotrigine therapy of epilepsy with Angelman's syndrome.
Epilepsia , 2007 Mar: 593-6
Smyth MD, Limbrick DD Jr, Ojemann JG, Zempel J, Robinson S, O'Brien DF, Saneto RP, Goyal M, Appleton RE, Mangano FT, Park TS
Outcome following surgery for temporal lobe epilepsy with hippocampal involvement in preadolescent children: emphasis on mesial temporal sclerosis.
Journal of neurosurgery , 2007 Mar: 205-10
Shetty-Alva N, Novotny EJ, Shetty T, Kuo PH
Positron emission tomography in Rasmussen's encephalitis.
Pediatric neurology , 2007 Feb: 112-4
Saneto RP, Sotero de Menezes MA, Ojemann JG, Bournival BD, Murphy PJ, Cook WB, Avellino AM, Ellenbogen RG
Vagus nerve stimulation for intractable seizures in children.
Pediatric neurology , 2006 Nov: 323-6
Amlie-Lefond CM, Felgenhauer JL, Leong AD
Localized purpura associated with lamotrigine.
Pediatric neurology , 2006 Sep: 35(3)227-8
Amlie-Lefond CM, Felgenhauer JL, Leong AD
Localized purpura associated with lamotrigine.
Pediatric neurology , 2006 Sep: 227-8
Gospe SM Jr
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.
Current opinion in neurology , April 2006: : 148-53
Everett LL, van Rooyen IF, Warner MH, Shurtleff HA, Saneto RP, Ojemann JG
Use of dexmedetomidine in awake craniotomy in adolescents: report of two cases.
Paediatric anaesthesia , 2006 Mar: 338-42
Everett LL, van Rooyen IF, Warner MH, Shurtleff HA, Saneto RP, Ojemann JG
Use of dexmedetomidine in awake craniotomy in adolescents: report of two cases.
Paediatric anaesthesia , 2006 Mar: 338-42
Barry PA, Lockridge KM, Salamat S, Tinling SP, Yue Y, Zhou SS, Gospe SM Jr, Britt WJ, Tarantal AF
Nonhuman primate models of intrauterine cytomegalovirus infection.
ILAR journal / National Research Council, Institute of Laboratory Animal Resources , 2006: : 49-64
Saneto RP, Bouldin A
A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation.
Journal of child neurology , 2006 Jan: 77-9
Pearl PL, Capp PK, Novotny EJ, Gibson KM
Inherited disorders of neurotransmitters in children and adults.
Clinical biochemistry , 2005 Dec: 1051-8
Amlie-Lefond C, Paz DA, Connelly MP, Huffnagle GB, Whelan NT, Whelan HT
Innate immunity for biodefense: a strategy whose time has come.
The Journal of allergy and clinical immunology , 2005 Dec: 116(6)1334-42
Amlie-Lefond C, Paz DA, Connelly MP, Huffnagle GB, Whelan NT, Whelan HT
Innate immunity for biodefense: a strategy whose time has come.
The Journal of allergy and clinical immunology , 2005 Dec: 1334-42
Gospe SM Jr, Bell RM
Hospital pharmacy and emergency department availability of parenteral pyridoxine.
Pediatric emergency care , Sept. 2005: : 586-8
McNally KA, Paige AL, Varghese G, Zhang H, Novotny EJ Jr, Spencer SS, Zubal IG, Blumenfeld H
Localizing value of ictal-interictal SPECT analyzed by SPM (ISAS).
Epilepsia , 2005 Sep: 1450-64
Zerr DM, Blume HK, Berg AT, Del Beccaro MA, Gospe SM Jr, Allpress AL, Christakis DA
Nonfebrile illness seizures: a unique seizure category?
Epilepsia , June 2005: : 952-5
Willoughby RE Jr, Tieves KS, Hoffman GM, Ghanayem NS, Amlie-Lefond CM, Schwabe MJ, Chusid MJ, Rupprecht CE
Survival after treatment of rabies with induction of coma.
The New England journal of medicine , 2005 Jun 16: 352(24)2508-14
Willoughby RE Jr, Tieves KS, Hoffman GM, Ghanayem NS, Amlie-Lefond CM, Schwabe MJ, Chusid MJ, Rupprecht CE
Survival after treatment of rabies with induction of coma.
The New England journal of medicine , 2005 Jun 16: 2508-14
Safriel Y, Pol-Rodriguez M, Novotny EJ, Rothman DL, Fulbright RK
Reference values for long echo time MR spectroscopy in healthy adults.
AJNR. American journal of neuroradiology , 2005 Jun-Jul: 1439-45
Allan WC, Gospe SM Jr
Seizures, syncope, or breath-holding presenting to the pediatric neurologist--when is the etiology a life-threatening arrhythmia?
Seminars in pediatric neurology , March 2005: : 2-9
Bamford NS, Robinson S, Palmiter RD, Joyce JA, Moore C, Meshul CK
Dopamine modulates release from corticostriatal terminals.
The Journal of neuroscience : the official journal of the Society for Neuroscience , Oct. 2004: 9541-52
Trübel H, Herman P, Kampmann C, Huth R, Maciejewski PK, Novotny E, Hyder F
A novel approach for selective brain cooling: implications for hypercapnia and seizure activity.
Intensive care medicine , 2004 Sep: 1829-33
Blumenfeld H, McNally KA, Vanderhill SD, Paige AL, Chung R, Davis K, Norden AD, Stokking R, Studholme C, Novotny EJ Jr, Zubal IG, Spencer SS
Positive and negative network correlations in temporal lobe epilepsy.
Cerebral cortex (New York, N.Y. : 1991) , 2004 Aug: 892-902
Bamford NS, Zhang H, Schmitz Y, Wu NP, Cepeda C, Levine MS, Schmauss C, Zakharenko SS, Zablow L, Sulzer D
Heterosynaptic dopamine neurotransmission selects sets of corticostriatal terminals.
Neuron , May 2004: 653-63
Baynes K, Farias ST, Gospe SM Jr
Pyridoxine-dependent seizures and cognition in adulthood.
Developmental medicine and child neurology , Nov. 2003: : 782-5
Lai JC, White BK, Buerstatte CR, Haddad GG, Novotny EJ Jr, Behar KL
Chronic hypoxia in development selectively alters the activities of key enzymes of glucose oxidative metabolism in brain regions.
Neurochemical research , 2003 Jun: 933-40
Nguyen D, Singh S, Zaatreh M, Novotny E, Levy S, Testa F, Spencer SS
Hypothalamic hamartomas: seven cases and review of the literature.
Epilepsy & behavior : E&B , 2003 Jun: 246-58
Trübel HK, Novotny E, Lister G
Outcome of coma in children.
Current opinion in pediatrics , 2003 Jun: 283-7
Motamedi M, Nguyen DK, Zaatreh M, Singh SP, Westerveld M, Thompson JL, Mattson R, Blumenfeld H, Novotny E, Spencer SS
Levetiracetam efficacy in refractory partial-onset seizures, especially after failed epilepsy surgery.
Epilepsia , 2003 Feb: 211-4
Novotny EJ Jr, Fulbright RK, Pearl PL, Gibson KM, Rothman DL
Magnetic resonance spectroscopy of neurotransmitters in human brain.
Annals of neurology , 2003: S25-31
Pearl PL, Novotny EJ, Acosta MT, Jakobs C, Gibson KM
Succinic semialdehyde dehydrogenase deficiency in children and adults.
Annals of neurology , 2003: S73-80
Mesiwala AH, Kuratani JD, Avellino AM, Roberts TS, Sotero MA, Ellenbogen RG
Focal motor seizures with secondary generalization arising in the cerebellum. Case report and review of the literature.
Journal of neurosurgery , 2002 Jul: 190-6
Zaatreh MM, Spencer DD, Thompson JL, Blumenfeld H, Novotny EJ, Mattson RH, Spencer SS
Frontal lobe tumoral epilepsy: clinical, neurophysiologic features and predictors of surgical outcome.
Epilepsia , 2002 Jul: 727-33
Gospe SM
Pyridoxine-dependent seizures: findings from recent studies pose new questions.
Pediatric neurology , March 2002: : 181-5
Butchko HH, Stargel WW, Comer CP, Mayhew DA, Benninger C, Blackburn GL, de Sonneville LM, Geha RS, Hertelendy Z, Koestner A, Leon AS, Liepa GU, McMartin KE, Mendenhall CL, Munro IC, Novotny EJ, Renwick AG, Schiffman SS, Schomer DL, Shaywitz BA, Spiers PA, Tephly TR, Thomas JA, Trefz FK
Aspartame: review of safety.
Regulatory toxicology and pharmacology : RTP , 2002 Apr: S1-93
Bamford NS, Trojaborg W, Sherbany AA, De Vivo DC
Congenital Guillain-Barr syndrome associated with maternal inflammatory bowel disease is responsive to intravenous immunoglobulin.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society , 2002: 115-9
Warner M
To the Editor.
Epilepsy & behavior : E&B , 2001 Dec: 610
Anderson GD, Kim H, Warner MH
Impact of Taking Antiepileptic Drugs at School in a Group of Children and Adolescents.
Epilepsy & behavior : E&B , 2000 Feb: 17-21
Nigel S. Bamford, MD
Varicella-Zoster Virus Retrobulbar Optic Neuritis in a Patient with Human Immunodeficiency Virus
Am J Ophthal , 1996: 122(4)586-588
Gospe SM, Pagon RA, Bird TD, Dolan CR, Stephens K
Pyridoxine-Dependent Seizures
, 1993
Sidney M. Gospe, MD, PhD
Vitamin B6-Dependent Epilepsies
P Pearl (Ed.) Metabolic Epilepsies , : in press