Search

Your search keyword '"Stodberg, T"' showing total 5 results
Start Over Author "Stodberg, T"
5 results on '"Stodberg, T"'

1. Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Author

Stodberg, T, McTague, A, Ruiz, AJ, Hirata, H, Zhen, J, Long, P, Farabella, I, Meyer, E, Kawahara, A, Vassallo, G, Stivaros, SM, Bjursell, MK, Stranneheim, H, Tigerschiold, S, Persson, B, Bangash, I, Das, K, Hughes, D, Lesko, N, Lundeberg, J, Scott, RC, Poduri, A, Scheffer, IE, Smith, H, Gissen, P, Schorge, S, Reith, MEA, Topf, M, Kullmann, DM, Harvey, RJ, Wedell, A, Kurian, MA, Stodberg, T, McTague, A, Ruiz, AJ, Hirata, H, Zhen, J, Long, P, Farabella, I, Meyer, E, Kawahara, A, Vassallo, G, Stivaros, SM, Bjursell, MK, Stranneheim, H, Tigerschiold, S, Persson, B, Bangash, I, Das, K, Hughes, D, Lesko, N, Lundeberg, J, Scott, RC, Poduri, A, Scheffer, IE, Smith, H, Gissen, P, Schorge, S, Reith, MEA, Topf, M, Kullmann, DM, Harvey, RJ, Wedell, A, and Kurian, MA

Abstract

The potassium-chloride co-transporter KCC2, encoded by SLC12A5, plays a fundamental role in fast synaptic inhibition by maintaining a hyperpolarizing gradient for chloride ions. KCC2 dysfunction has been implicated in human epilepsy, but to date, no monogenic KCC2-related epilepsy disorders have been described. Here we show recessive loss-of-function SLC12A5 mutations in patients with a severe infantile-onset pharmacoresistant epilepsy syndrome, epilepsy of infancy with migrating focal seizures (EIMFS). Decreased KCC2 surface expression, reduced protein glycosylation and impaired chloride extrusion contribute to loss of KCC2 activity, thereby impairing normal synaptic inhibition and promoting neuronal excitability in this early-onset epileptic encephalopathy.

Published
2015

2. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Author

Mills, P. B., primary, Camuzeaux, S. S. M., additional, Footitt, E. J., additional, Mills, K. A., additional, Gissen, P., additional, Fisher, L., additional, Das, K. B., additional, Varadkar, S. M., additional, Zuberi, S., additional, McWilliam, R., additional, Stodberg, T., additional, Plecko, B., additional, Baumgartner, M. R., additional, Maier, O., additional, Calvert, S., additional, Riney, K., additional, Wolf, N. I., additional, Livingston, J. H., additional, Bala, P., additional, Morel, C. F., additional, Feillet, F., additional, Raimondi, F., additional, Del Giudice, E., additional, Chong, W. K., additional, Pitt, M., additional, and Clayton, P. T., additional

Published
2014
Full Text
View/download PDF

3. De novo SCN1A mutations in migrating partial seizures of infancy

Author

Carranza Rojo, D., primary, Hamiwka, L., additional, McMahon, J. M., additional, Dibbens, L. M., additional, Arsov, T., additional, Suls, A., additional, Stodberg, T., additional, Kelley, K., additional, Wirrell, E., additional, Appleton, B., additional, Mackay, M., additional, Freeman, J. L., additional, Yendle, S. C., additional, Berkovic, S. F., additional, Bienvenu, T., additional, De Jonghe, P., additional, Thorburn, D. R., additional, Mulley, J. C., additional, Mefford, H. C., additional, and Scheffer, I. E., additional

Published
2011
Full Text
View/download PDF

4. De novo SCN1A mutations in migrating partial seizures of infancy.

Author

Rojo, D. Carranza, Hamiwka, L., McMahon, J. M., Dibbens, L. M., Arsov, T., Suls, A., Stodberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J. L., Yendle, S. C., Berkovic, S. F., Bienvenu, T., Dejonghe, P., Thorburn, D. R., Mulley, J. C., Mefford, H. C., and Scheffer, I. E.

Published
2011
Full Text
View/download PDF

5. De novo SCN1A mutations in migrating partial seizures of infancy

Author

Samuel F. Berkovic, David R. Thorburn, L. Hamiwka, Arvid Suls, Heather C Mefford, P. De Jonghe, Leanne M. Dibbens, B. Appleton, Todor Arsov, Mark T Mackay, Elaine C. Wirrell, Simone C. Yendle, Ingrid E. Scheffer, Tommy Stödberg, Thierry Bienvenu, Jeremy L. Freeman, Kent Kelley, Jacinta M McMahon, John C. Mulley, D. Carranza Rojo, Rojo, D Carranza, Hamiwka, L, McMahon, JM, Dibbens, LM, Arsov, T, Suls, A, Stodberg, T, Kelley, K, Wirrell, E, Appleton, B, Mackay, M, Freeman, JL, Yendle, SC, Berkovic, SF, Bienvenu, T, De Jonghe, P, Thorburn, DR, Mulley, JC, Mefford, HC, and Scheffer, IE

Subjects
Male, Pathology, medicine.medical_specialty, DNA Copy Number Variations, CDKL5, Nerve Tissue Proteins, DNA-Directed DNA Polymerase, Protein Serine-Threonine Kinases, Biology, Bioinformatics, Sodium Channels, Epilepsy, Munc18 Proteins, Dravet syndrome, Convulsion, medicine, Humans, STXBP1, Missense mutation, Genetic Predisposition to Disease, Genetic Testing, Copy-number variation, Child, Genetic testing, severe infantile multifocal epilepsy, medicine.diagnostic_test, copy number variation, Infant, Articles, Cadherins, medicine.disease, Protocadherins, DNA Polymerase gamma, NAV1.1 Voltage-Gated Sodium Channel, epileptic encephalopathy, Child, Preschool, Mutation, Female, Human medicine, Epilepsies, Partial, Neurology (clinical), medicine.symptom
Abstract

Objective: To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI). Methods: Fifteen unrelated children with MPSI were screened for mutations in genes associated with infantile epileptic encephalopathies: SCN1A, CDKL5, STXBP1, PCDH19, and POLG. Microarray studies were performed to identify copy number variations. Results: One patient had a de novo SCN1A missense mutation p.R862G that affects the voltage sensor segment of SCN1A. A second patient had a de novo 11.06 Mb deletion of chromosome 2q24.2q31.1 encompassing more than 40 genes that included SCN1A. Screening of CDKL5 (13/15 patients), STXBP1 (13/15), PCDH19 (9/11 females), and the 3 common European mutations of POLG (11/15) was negative. Pathogenic copy number variations were not detected in 11/12 cases. Conclusion: Epilepsies associated with SCN1A mutations range in severity from febrile seizures to severe epileptic encephalopathies including Dravet syndrome and severe infantile multifocal epilepsy. MPSI is now the most severe SCN1A phenotype described to date. While not a common cause of MPSI, SCN1A screening should now be considered in patients with this devastating epileptic encephalopathy. GLOSSARY: CNV: copy number variation EE: epileptic encephalopathy MPSI: malignant migrating partial seizures of infancy SIMFE: severe infantile multifocal epilepsy.

Published
2011

Catalog

Books, media, physical & digital resources
See catalog results