Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Steven L. Kugler"'
Autor:
Vishnu Anand Cuddapah, Elaine H. Zackai, Holly Dubbs, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Daniel J. Licht, Steven L Kugler, Eric D. Marsh, Laura Adang, Xilma R. Ortiz-Gonzalez, Shana E. McCormack, Marni J. Falk
Publikováno v:
Am J Med Genet A
Over the past decade, pathogenic variants in all members of the ASXL family of genes, ASXL1, ASXL2, and ASXL3, have been found to lead to clinically distinct but overlapping syndromes. Bohring-Opitz syndrome (BOPS) was first described as a clinical s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cfa068089892d16e10d30ccbaeae3ed
https://doi.org/10.1002/ajmg.a.62156
https://doi.org/10.1002/ajmg.a.62156
Autor:
Lisa J Strug, Laura Addis, Theodore Chiang, Zeynep Baskurt, Weili Li, Tara Clarke, Huntley Hardison, Steven L Kugler, David E Mandelbaum, Edward J Novotny, Steven M Wolf, Deb K Pal
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e40696 (2012)
BackgroundReading disability (RD) is a common neurodevelopmental disorder with genetic basis established in families segregating "pure" dyslexia. RD commonly occurs in neurodevelopmental disorders including Rolandic Epilepsy (RE), a complex genetic d
Externí odkaz:
https://doaj.org/article/abfb5ed79ddd4be28e2b968ea47c8eab
Autor:
David McCormick, Steven L. Kugler, Deb K. Pal, Jacqueline Taylor, Jennifer Crosbie, Tara Clarke, Steven M. Wolf, Russell Schachar, John Trounce, Cigdem I. Akman, Elaine C. Wirrell, Michael D. Wilson, David E. Mandelbaum, Laura Addis, Roberto Caraballo, Lisa J. Strug, Stéphane Auvin, Paul Arnold, Caroline Oren, Maria Kinali, Naim Panjwani, Patricia McGoldrick
Publikováno v:
Annals of Clinical and Translational Neurology
Objective Rolandic epilepsy is a common genetic focal epilepsy of childhood characterized by centrotemporal sharp waves on electroencephalogram. In previous genome‐wide analysis, we had reported linkage of centrotemporal sharp waves to chromosome 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d37dbe2495d7ef0609a1afbb7f3fb6b5
http://europepmc.org/articles/PMC4931716
http://europepmc.org/articles/PMC4931716
Autor:
David McCormick, Tara Clarke, Shan Tang, Rajesh Gupta, Steven L. Kugler, Lisa J. Strug, Marisa Pina, Sushma Goyal, Cigdem I. Akman, Caroline Oren, Anna B. Smith, John Trounce, Elaine Hughes, Hannah Cockerill, Steven M Wolf, John Jackman, David E. Mandelbaum, Kumudini Gomez, Colm J. McGinnity, Zaloa Agirre-Arrizubieta, Patricia McGoldrick, Nicola Jolleff, Jacqueline Taylor, Yaiza Hernández Vega, David Scott, Deb K. Pal
Publikováno v:
Epilepsy & Behavior. 53:174-179
Objective The high prevalence and impact of neurodevelopmental comorbidities in childhood epilepsy are now well known, as are the increased risks and familial aggregation of reading disability (RD) and speech sound disorder (SSD) in rolandic epilepsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a2946e77f34f7b7d901a846353303b6
https://doi.org/10.1016/j.yebeh.2015.10.016
https://doi.org/10.1016/j.yebeh.2015.10.016
Autor:
David E. Mandelbaum, Theodore Chiang, Deb K. Pal, Steven M. Wolf, Steven L. Kugler, Edward J. Novotny, Laura Addis, Tara Clarke, Lisa J. Strug, Huntley Hardison
Publikováno v:
Genes, Brain and Behavior. 13:333-340
Migraine headaches are a common comorbidity in Rolandic epilepsy (RE) and familial aggregation of migraine in RE families suggests a genetic basis not mediated by seizures. We performed a genome-wide linkage analysis of the migraine phenotype in 38 f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::702a1b8f2d4a8992b2d382944fe551a2
https://doi.org/10.1111/gbb.12110
https://doi.org/10.1111/gbb.12110
Autor:
Ryan Cauley, Martina Durner, Steven L. Kugler, David E. Mandelbaum, Deb K. Pal, Esther Vierck
Publikováno v:
Journal of Child Neurology. 25:475-481
About 40% of children with childhood absence epilepsy develop generalized tonic-clonic seizures. It is commonly held that polyspike—wave pattern on the electroencephalogram (EEG) can predict this development of generalized tonic-clonic seizures. Ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6132b902d6b81bf6619c074e278b5945
https://doi.org/10.1177/0883073809341665
https://doi.org/10.1177/0883073809341665
Autor:
David A. Greenberg, Zeynep Baskurt, Patricia McGoldrick, Theodore Chiang, Huntley Hardison, Bhavna Bali, Tara Clarke, Ruslan Dorfman, Steven M Wolf, Weili Li, Steven L. Kugler, Deb K. Pal, Edward J. Novotny, Elaine C. Wirrell, James J. Russo, Minchen Chien, Lisa J. Strug, Jingyue Ju, David E. Mandelbaum
Publikováno v:
European Journal of Human Genetics. 17:1171-1181
Rolandic epilepsy (RE) is the most common human epilepsy, affecting children between 3 and 12 years of age, boys more often than girls (3:2). Focal sharp waves in the centrotemporal area define the electroencephalographic (EEG) trait for the syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::647f656328ac93afdb35f415151a62d9
https://doi.org/10.1038/ejhg.2008.267
https://doi.org/10.1038/ejhg.2008.267
Autor:
Bhavna Bali, Lisa J. Strug, P. L. Murphy, Deb K. Pal, Steven L. Kugler, David A. Greenberg, Bernadine R. Gagnon, Tara Clarke, Philip Lieberman
Publikováno v:
Epilepsia. 49:1086-1090
We report a three generation pedigree with 11 of 22 affected with a variant form of rolandic epilepsy, speech impairment, oromotor apraxia, and cognitive deficit. The core features comprised nocturnal rolandic seizures, interictal centrotemporal spik
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4641a43074c5177bae2aaff1cef80aa2
https://doi.org/10.1111/j.1528-1167.2007.01517.x
https://doi.org/10.1111/j.1528-1167.2007.01517.x
Autor:
Jan B. Wollack, Anuradha Venkatasubramanian, David E. Mandelbaum, Steven L. Kugler, Marjorie Bunch
Publikováno v:
Journal of Child Neurology. 20:594-597
In a retrospective study of 35 children (ages 8 months to 22 years; mean age 9 years) with intractable epilepsy, seizure frequency was determined before and after 12 months of zonisamide therapy. Charts were reviewed for seizure type (focal, generali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a44829d5d733e5098f5b4dcdfa041479
https://doi.org/10.1177/08830738050200071101
https://doi.org/10.1177/08830738050200071101
Publikováno v:
Neurology. 60:410-414
Objective:To identify phenotypic features of febrile seizures that can be used to reduce heterogeneity and thereby increase power in linkage analysis.Background:Despite exciting discoveries in several rare pedigrees, the genetic basis of common febri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54ae03c29f0eaac65ffb21198bf39e83
https://doi.org/10.1212/wnl.60.3.410
https://doi.org/10.1212/wnl.60.3.410