• 3529 Citations
  • 22 h-Index
1984 …2019
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Research Output 1984 2019

  • 3529 Citations
  • 22 h-Index
  • 48 Article
  • 4 Conference contribution
  • 2 Chapter
  • 1 Editorial
2019
6 Citations (Scopus)
Open Access
Cannabidiol
Epilepsy
Pharmacokinetics
Pediatrics
Pharmaceutical Preparations
2018
6 Citations (Scopus)

Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: Final 4-year results from the randomized EXIST-1 and EXIST-2 studies

Franz, D. N., Budde, K., Kingswood, J. C., Belousova, E., Sparagana, S., de Vries, P. J., Berkowitz, N., Ridolfi, A. & Bissler, J. J., Jan 1 2018, (Accepted/In press) In : Journal of the European Academy of Dermatology and Venereology.

Research output: Contribution to journalArticle

Angiomyolipoma
Tuberous Sclerosis
Astrocytoma
Kidney
Skin
17 Citations (Scopus)

Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex the TREATMENT randomized clinical trial

TREATMENT Trial Collaborators, Jul 1 2018, In : JAMA Dermatology. 154, 7, p. 773-780 8 p.

Research output: Contribution to journalArticle

Angiofibroma
Tuberous Sclerosis
Sirolimus
Randomized Controlled Trials
Safety
2 Citations (Scopus)

Epilepsy treatment patterns among patients with tuberous sclerosis complex

Song, J., Swallow, E., Said, Q., Peeples, M., Meiselbach, M., Signorovitch, J., Kohrman, M., Korf, B., Krueger, D., Wong, M. & Sparagana, S., Aug 15 2018, In : Journal of the Neurological Sciences. 391, p. 104-108 5 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Epilepsy
Pharmaceutical Preparations
Therapeutics
Databases
2017
7 Citations (Scopus)

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Peng, Y., Shinde, D. N., Valencia, C. A., Mo, J. S., Rosenfeld, J., Cho, M. T., Chamberlin, A., Li, Z., Liu, J., Gui, B., Brockhage, R., Basinger, A., Alvarez-Leon, B., Heydemann, P., Magoulas, P. L., Lewis, A. M., Scaglia, F., Gril, S., Chong, S. C., Bower, M. & 22 others, Monaghan, K. G., Willaert, R., Plona, M. R., Dineen, R., Milan, F., Hoganson, G., Powis, Z., Helbig, K. L., Keller-Ramey, J., Harris, B., Anderson, L. C., Green, T., Sukoff Rizzo, S. J., Kaylor, J., Chen, J., Guan, M. X., Sellars, E., Sparagana, S. P., Gibson, J. B., Reinholdt, L. G., Tang, S. & Huang, T., Dec 1 2017, In : Human Molecular Genetics. 26, 24, p. 4937-4950 14 p.

Research output: Contribution to journalArticle

Optic Atrophy
Ferredoxins
Oxidoreductases
Mutation
Iron
3 Citations (Scopus)

Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex

Sparagana, S., Franz, D. N., Krueger, D. A., Bissler, J. J., Berkowitz, N., Burock, K. & Kingswood, J. C., Oct 1 2017, In : PLoS One. 12, 10, e0186235.

Research output: Contribution to journalArticle

Tuberous Sclerosis
sclerosis
clinical trials
Follicle Stimulating Hormone
amenorrhea
11 Citations (Scopus)

The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma

Bissler, J. J., Franz, D. N., Frost, M. D., Belousova, E., Bebin, E. M., Sparagana, S., Berkowitz, N., Ridolfi, A. & Kingswood, J. C., Oct 9 2017, (Accepted/In press) In : Pediatric Nephrology. p. 1-9 9 p.

Research output: Contribution to journalArticle

Angiomyolipoma
Tuberous Sclerosis
Astrocytoma
Pediatrics
Kidney
6 Citations (Scopus)

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex

Farach, L. S., Gibson, W. T., Sparagana, S. P., Nellist, M., Stumpel, C. T. R. M., Hietala, M., Friedman, E., Pearson, D. A., Creighton, S. P., Wagemans, A., Segel, R., Ben-Shalom, E., Au, K. S. & Northrup, H., Mar 1 2017, In : American Journal of Medical Genetics, Part A. 173, 3, p. 771-775 5 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Skin Abnormalities
Phenotype
Autistic Disorder
Intellectual Disability
2016
1 Citation (Scopus)

A wireless system improves reliability of intraoperative monitoring recordings

Mays, J., Rampy, P., Sucato, D., Sparagana, S. & Chiao, J. C., Mar 31 2016, BioWireleSS 2016 - Proceedings, 2016 IEEE Topical Conference on Biomedical Wireless Technologies, Networks, and Sensing Systems. Institute of Electrical and Electronics Engineers Inc., p. 5-7 3 p. 7445546

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Intraoperative Neurophysiological Monitoring
Intraoperative Monitoring
Electromagnetic Phenomena
Signal interference
Monitoring
2 Citations (Scopus)

Electromagnetic interference in intraoperative monitoring of motor evoked potentials and a wireless solution

Farajidavar, A., Seifert, J. L., Delgado, M. R., Sparagana, S., Romero-Ortega, M. I. & Chiao, J. C., Feb 1 2016, In : Medical Engineering and Physics. 38, 2, p. 87-96 10 p.

Research output: Contribution to journalArticle

Intraoperative Monitoring
Motor Evoked Potentials
Intraoperative Neurophysiological Monitoring
Electromagnetic Phenomena
Bioelectric potentials
56 Citations (Scopus)

Long-term use of everolimus in patients with tuberous sclerosis complex: Final results from the EXIST-1 study

Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M. D., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., Curatolo, P., De Vries, P. J., Berkowitz, N., Niolat, J. & Jóźwiak, S., Jun 1 2016, In : PLoS One. 11, 6, e0158476.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Astrocytoma
sclerosis
giant cells
Angiomyolipoma
1 Citation (Scopus)

MTORC1 inhibition for epilepsy in TSC

Sparagana, S. P., Sep 6 2016, In : Neurology. 87, 10, p. 974-975 2 p.

Research output: Contribution to journalEditorial

Epilepsy
1 Citation (Scopus)

Patterns of Disease Monitoring and Treatment Among Patients With Tuberous Sclerosis Complex-related Angiomyolipomas

Swallow, E., King, S., Song, J., Peeples, M., Signorovitch, J. E., Liu, Z., Prestifilippo, J., Frost, M., Kohrman, M., Korf, B., Krueger, D. & Sparagana, S., Nov 29 2016, (Accepted/In press) In : Urology.

Research output: Contribution to journalArticle

Angiomyolipoma
Tuberous Sclerosis
Nephrectomy
Therapeutics
Natural History

Report of clinical results in intraoperative wireless recording

Chiao, J. C., Sucato, D., Sparagana, S., Mays, J. & Rampy, P., Sep 27 2016, RFIT 2016 - 2016 IEEE International Symposium on Radio-Frequency Integration Technology. Institute of Electrical and Electronics Engineers Inc., 7578148

Research output: Chapter in Book/Report/Conference proceedingConference contribution

waveforms
spine
recording
surgery
Surgery
9 Citations (Scopus)

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

Ekong, R., Nellist, M., Hoogeveen-Westerveld, M., Wentink, M., Panzer, J., Sparagana, S., Emmett, W., Dawson, N. L., Malinge, M. C., Nabbout, R., Carbonara, C., Barberis, M., Padovan, S., Futema, M., Plagnol, V., Humphries, S. E., Migone, N. & Povey, S., Apr 1 2016, In : Human Mutation. 37, 4, p. 364-370 7 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Exons
Alternative Splicing
2015

A wireless solution for intraoperative monitoring

Mays, J., Rampy, P., Sucato, D., Sparagana, S. & Chiao, J. C., Oct 21 2015, 2015 IEEE MTT-S International Microwave Workshop Series on RF and Wireless Technologies for Biomedical and Healthcare Applications, IMWS-BIO 2015 - Proceedings. Institute of Electrical and Electronics Engineers Inc., p. 244-245 2 p. 7303867

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Intraoperative Neurophysiological Monitoring
Intraoperative Monitoring
Electromagnetic Phenomena
Signal interference
Monitoring
2014
5 Citations (Scopus)

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Filges, I., Sparagana, S., Sargent, M., Selby, K., Schlade-Bartusiak, K., Lueder, G. T., Robichaux-Viehoever, A., Schlaggar, B. L., Shimony, J. S. & Shinawi, M., 2014, In : American Journal of Medical Genetics, Part A. 164, 8, p. 2003-2012 10 p.

Research output: Contribution to journalArticle

Brain
Developmental Disabilities
Phenotype
Neuronal Ceroid-Lipofuscinoses
Penetrance
104 Citations (Scopus)

Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study

Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., Curatolo, P., de Vries, P. J., Berkowitz, N., Anak, O., Niolat, J. & Jozwiak, S., 2014, In : The Lancet Oncology. 15, 13, p. 1513-1520 8 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Astrocytoma
Everolimus
Tuberous Sclerosis 2
Cell Size
5 Citations (Scopus)

Genomic analyses of patients with unexplained early-onset scoliosis

Gao, X., Gotway, G., Rathjen, K., Johnston, C., Sparagana, S. & Wise, C. A., 2014, In : Spine Deformity. 2, 5, p. 324-332 9 p.

Research output: Contribution to journalArticle

Scoliosis
Mutation
Uniparental Disomy
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 10
55 Citations (Scopus)

The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: Subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1

Kingswood, J. C., Jozwiak, S., Belousova, E. D., Frost, M. D., Kuperman, R. A., Bebin, E. M., Korf, B. R., Flamini, J. R., Kohrman, M. H., Sparagana, S. P., Wu, J. Y., Brechenmacher, T., Stein, K., Berkowitz, N., Bissler, J. J. & Franz, D. N., 2014, In : Nephrology Dialysis Transplantation. 29, 6, p. 1203-1210 8 p.

Research output: Contribution to journalArticle

Angiomyolipoma
Tuberous Sclerosis
Astrocytoma
Placebos
Kidney
2013
443 Citations (Scopus)

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): A multicentre, randomised, placebo-controlled phase 3 trial

Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., Curatolo, P., De Vries, P. J., Whittemore, V. H., Thiele, E. A., Ford, J. P., Shah, G., Cauwel, H., Lebwohl, D., Sahmoud, T. & Jozwiak, S., Jan 2013, In : The Lancet. 381, 9861, p. 125-132 8 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Astrocytoma
Placebos
Safety
Sirolimus
33 Citations (Scopus)

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Hoogeveen-Westerveld, M., Ekong, R., Povey, S., Mayer, K., Lannoy, N., Elmslie, F., Bebin, M., Dies, K., Thompson, C., Sparagana, S. P., Davies, P., van den Ouweland, A., Halley, D. & Nellist, M., Jan 2013, In : Human Mutation. 34, 1, p. 167-175 9 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Mutation
Amino Acid Substitution
Genes
Software
3 Citations (Scopus)

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Hoogeveen-Westerveld, M., Ekong, R., Povey, S., Mayer, K., Lannoy, N., Elmslie, F., Bebin, M., Dies, K., Thompson, C., Sparagana, S. P., Davies, P., van Eeghen, A. M., Thiele, E. A., van den Ouweland, A., Halley, D. & Nellist, M., Feb 2013, In : Human Mutation. 34, 2, p. 409-410 2 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
2 Citations (Scopus)

Spinal cord monitoring with transcranial motor evoked potentials in patients with neural axis abnormalities undergoing spinal deformity surgery

Muchow, R. D., McClung, A., Rampy, P., Van Allen, E., Sparagana, S. & Sucato, D. J., 2013, In : Spine Deformity. 1, 3, p. 205-210 6 p.

Research output: Contribution to journalArticle

Motor Evoked Potentials
Spinal Cord
Scoliosis
Somatosensory Evoked Potentials
Neurologic Manifestations
589 Citations (Scopus)

Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conference

International Tuberous Sclerosis Complex Consensus Group, Oct 1 2013, In : Pediatric Neurology. 49, 4, p. 243-254 12 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Genetic Testing
377 Citations (Scopus)

Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 international tuberous sclerosis complex consensus conference

International Tuberous Sclerosis Complex Consensus Group, Oct 1 2013, In : Pediatric Neurology. 49, 4, p. 255-265 11 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Inborn Genetic Diseases
Practice Management
Practice Guidelines
Quality of Life
2012
29 Citations (Scopus)

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

Hoogeveen-Westerveld, M., Ekong, R., Povey, S., Karbassi, I., Batish, S. D., den Dunnen, J. T., van Eeghen, A., Thiele, E., Mayer, K., Dies, K., Wen, L., Thompson, C., Sparagana, S. P., Davies, P., Aalfs, C., van den Ouweland, A., Halley, D. & Nellist, M., Mar 2012, In : Human Mutation. 33, 3, p. 476-479 4 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Amino Acid Substitution
Amino Acids
Genes
Software
7 Citations (Scopus)
Somatosensory Evoked Potentials
Peripheral Nerves
Extremities
Sensitivity and Specificity
Incidence
2011
3 Citations (Scopus)

A miniature power-efficient bidirectional telemetric platform for in-vivo acquisition of electrophysiological signals

Farajidavar, A., McCorkle, P., Wiggins, T., Rao, S., Hagains, C., Peng, Y., Seifert, J., Romero, M., O'Grady, G., Cheng, L., Sparagana, S., Delgado, M., Tang, S. J., Abell, T. & Chiao, J. C., 2011, IEEE MTT-S International Microwave Symposium Digest. 5972646

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Bioelectric potentials
acquisition
platforms
Transceivers
spinal cord
5 Citations (Scopus)

A wireless system for monitoring transcranial motor evoked potentials

Farajidavar, A., Seifert, J. L., Bell, J. E. S., Seo, Y. S., Delgado, M. R., Sparagana, S., Romero, M. I. & Chiao, J. C., Jan 2011, In : Annals of Biomedical Engineering. 39, 1, p. 517-523 7 p.

Research output: Contribution to journalArticle

Bioelectric potentials
Monitoring
Wire
Operating rooms
Dissection
2010
85 Citations (Scopus)

22q13.3 Deletion syndrome: Clinical and molecular analysis using array CGH

Dhar, S. U., Del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., Grebe, T. A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips, J. A., Beaudet, A. L., Stankiewicz, P., Patel, A., Cheung, S. W. & 1 others, Sahoo, T., Mar 2010, In : American Journal of Medical Genetics, Part A. 152, 3, p. 573-581 9 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Genetic Association Studies
Language Development Disorders
Telomeric 22q13 Monosomy Syndrome
Intellectual Disability

Diagnostic Criteria for Tuberous Sclerosis Complex

Steve Roach, E. & Sparagana, S. P., Jun 9 2010, Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics. Wiley-VCH, p. 21-25 5 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Angiofibroma
Tuberous Sclerosis
Epilepsy
8 Citations (Scopus)

Optic Nerve Tumor in Tuberous Sclerosis Complex is not Responsive to Sirolimus

Sparagana, S. P., Wilkes, D. C., Thompson, C. E. & Bowers, D. C., Jun 2010, In : Pediatric Neurology. 42, 6, p. 443-446 4 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Sirolimus
Optic Nerve
Giant Cell Tumors
Neoplasms
297 Citations (Scopus)

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S. H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., Clark, G., Lee, J., Proud, M., Stocco, A., Rodriguez, D. L., Kozel, B. A., Sparagana, S., Roeder, E. R., McGrew, S. G., Kurczynski, T. W. & 8 others, Allison, L. J., Amato, S., Savage, S., Patel, A., Stankiewicz, P., Beaudet, A. L., Cheung, S. W. & Lupski, J. R., May 2010, In : Journal of Medical Genetics. 47, 5, p. 332-341 10 p.

Research output: Contribution to journalArticle

Epilepsy
Head
Autistic Disorder
Phenotype
Megalencephaly
1 Citation (Scopus)

Tuberous Sclerosis

Sparagana, S. P. & Roach, E. S., 2010, Encyclopedia of Neuroscience. Elsevier Ltd, p. 1195-1201 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Tuberous Sclerosis
Neurocutaneous Syndromes
Mutation
Genes
Morbidity
2009
75 Citations (Scopus)

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Nagamani, S. C. S., Zhang, F., Shchelochkov, O. A., Bi, W., Ou, Z., Scaglia, F., Probst, F. J., Shinawi, M., Eng, C., Hunter, J. V., Sparagana, S., Lagoe, E., Fong, C. T., Pearson, M., Doco-Fenzy, M., Landais, E., Mozelle, M., Chinault, A. C., Patel, A., Bacino, C. A. & 5 others, Sahoo, T., Kang, S. H., Cheung, S. W., Lupski, J. R. & Stankiewicz, P., Dec 2009, In : Journal of Medical Genetics. 46, 12, p. 825-833 9 p.

Research output: Contribution to journalArticle

Classical Lissencephalies and Subcortical Band Heterotopias
Chromosomes
Lissencephaly
Growth
Comparative Genomic Hybridization
2007
222 Citations (Scopus)

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States

Au, K. S., Williams, A. T., Roach, E. S., Batchelor, L., Sparagana, S. P., Delgado, M. R., Wheless, J. W., Baumgartner, J. E., Roa, B. B., Wilson, C. M., Smith-Knuppel, T. K., Cheung, M. Y. C., Whittemore, V. H., King, T. M. & Northrup, H., Feb 2007, In : Genetics in Medicine. 9, 2, p. 88-100 13 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Genetic Association Studies
Mutation
Genotype
Neurocutaneous Syndromes
2006
6 Citations (Scopus)

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

Ou, Z., Jarmuz, M., Sparagana, S. P., Michaud, J., Décarie, J. C., Yatsenko, S. A., Nowakowska, B., Furman, P., Shaw, C. A., Shaffer, L. G., Lupski, J. R., Chinault, A. C., Cheung, S. W. & Stankiewicz, P., Sep 2006, In : Human Genetics. 120, 2, p. 227-237 11 p.

Research output: Contribution to journalArticle

Chromosome Breakpoints
Genomic Segmental Duplications
Genetic Translocation
Heterochromatin
Oncogenes
3 Citations (Scopus)

Microneurosurgery for neonatal brachial plexus palsy: The need for more information

Sparagana, S. P. & Ezaki, M., 2006, In : Archives of Neurology. 63, 7, p. 1033-1034 2 p.

Research output: Contribution to journalArticle

Obstetric Paralysis
Birth Injuries
Neurosurgical Procedures
Microsurgery
Brachial Plexus
17 Citations (Scopus)

Spinal cord monitoring in patients with spinal deformity and neural axis abnormalities: A comparison with adolescent idiopathic scoliosis patients

El-Hawary, R., Sucato, D. J., Sparagana, S., McClung, A., Van Allen, E. & Rampy, P., Sep 2006, In : Spine. 31, 19

Research output: Contribution to journalArticle

Physiologic Monitoring
Scoliosis
Spinal Cord
Motor Evoked Potentials
Somatosensory Evoked Potentials
2005
86 Citations (Scopus)

Long-term outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex

Ewalt, D. H., Diamond, N., Rees, C., Sparagana, S. P., Delgado, M., Batchelor, L. & Roach, E. S., Nov 2005, In : Journal of Urology. 174, 5, p. 1764-1766 3 p.

Research output: Contribution to journalArticle

Angiomyolipoma
Tuberous Sclerosis
Kidney
Neoplasms
Renal Insufficiency
2004
220 Citations (Scopus)

Diagnosis of tuberous sclerosis complex

Roach, E. S. & Sparagana, S. P., Sep 2004, In : Journal of Child Neurology. 19, 9, p. 643-649 7 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Mosaicism
DNA
Genetic Counseling
Prenatal Diagnosis
2003
11 Citations (Scopus)

Electroencephalography in holoprosencephaly: Findings in children without epilepsy

Hahn, J. S., Delgado, M. R., Clegg, N. J., Sparagana, S. P., Gerace, K. L., Barkovich, A. J. & Olson, D. M., Oct 2003, In : Clinical Neurophysiology. 114, 10, p. 1908-1917 10 p.

Research output: Contribution to journalArticle

Holoprosencephaly
Electroencephalography
Epilepsy
Cysts
Seizures
39 Citations (Scopus)

Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex

Sparagana, S. P., Delgado, M. R., Batchelor, L. L. & Roach, E. S., Sep 1 2003, In : Archives of Neurology. 60, 9, p. 1286-1289 4 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Anticonvulsants
Seizures
Epilepsy
Neuroimaging
2002
9 Citations (Scopus)

Holoprosencephaly: A review

Clegg, N. J., Gerace, K. L., Sparagana, S. P., Hahn, J. S. & Delgado, M. R., 2002, In : Neurodiagnostic Journal. 42, 2, p. 59-72 14 p.

Research output: Contribution to journalArticle

Holoprosencephaly
Electroencephalography
Epilepsy
Brain
Sleep
2001
22 Citations (Scopus)

Felbamate urolithiasis

Sparagana, S. P., Strand, W. R. & Adams, R. C., 2001, In : Epilepsia. 42, 5, p. 682-685 4 p.

Research output: Contribution to journalArticle

felbamate
Urolithiasis
Stents
Urinary Bladder Calculi
Polypharmacy
2000
8 Citations (Scopus)

Abnormal sudomotor function in the hypomelanotic macules of tuberous sclerosis complex

Chudnow, R. S., Wolfe, G. I., Sparagana, S. P., Delgado, M. R., Batchelor, L. & Roach, E. S., 2000, In : Journal of Child Neurology. 15, 8, p. 529-532 4 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Sweat
Sweat Glands
Skin
Iontophoresis
52 Citations (Scopus)

Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Furukawa, Y., Guttman, M., Sparagana, S. P., Trugman, J. M., Hyland, K., Wyatt, P., Lang, A. E., Rouleau, G. A., Shimadzu, M. & Kish, S. J., 2000, In : Annals of Neurology. 47, 4, p. 517-520 4 p.

Research output: Contribution to journalArticle

GTP Cyclohydrolase
DNA Sequence Analysis
Genes
Mutation
Molecular Biology
108 Citations (Scopus)

Tuberous sclerosis complex.

Sparagana, S. P. & Roach, E. S., Apr 2000, In : Current Opinion in Neurology. 13, 2, p. 115-119 5 p.

Research output: Contribution to journalArticle

Tuberous Sclerosis
Genes
Molecular Biology
Phenotype
Research
1999
17 Citations (Scopus)

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency

Hyland, K., Nygaard, T. G., Trugman, J. M., Swoboda, K. J., Arnold, L. A. & Sparagana, S. P., 1999, In : Journal of Inherited Metabolic Disease. 22, 3, p. 213-215 3 p.

Research output: Contribution to journalArticle

GTP Cyclohydrolase
Inborn Genetic Diseases
Dystonia
Heterozygote
Phenylalanine