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Your search keyword '"Dibbens, L."' showing total 9 results
Start Over Author "Dibbens, L." Publisher ovid technologies (wolters kluwer health)
9 results on '"Dibbens, L."'

1. Genetics of epilepsy: The testimony of twins in the molecular era

Author

Vadlamudi, L., primary, Milne, R. L., additional, Lawrence, K., additional, Heron, S. E., additional, Eckhaus, J., additional, Keay, D., additional, Connellan, M., additional, Torn-Broers, Y., additional, Howell, R. A., additional, Mulley, J. C., additional, Scheffer, I. E., additional, Dibbens, L. M., additional, Hopper, J. L., additional, and Berkovic, S. F., additional

Published
2014
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2. GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

Author

Carvill, G. L., primary, Weckhuysen, S., additional, McMahon, J. M., additional, Hartmann, C., additional, Moller, R. S., additional, Hjalgrim, H., additional, Cook, J., additional, Geraghty, E., additional, O'Roak, B. J., additional, Petrou, S., additional, Clarke, A., additional, Gill, D., additional, Sadleir, L. G., additional, Muhle, H., additional, von Spiczak, S., additional, Nikanorova, M., additional, Hodgson, B. L., additional, Gazina, E. V., additional, Suls, A., additional, Shendure, J., additional, Dibbens, L. M., additional, De Jonghe, P., additional, Helbig, I., additional, Berkovic, S. F., additional, Scheffer, I. E., additional, and Mefford, H. C., additional

Published
2014
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4. Autosomal dominant vasovagal syncope: Clinical features and linkage to chromosome 15q26

Author

Klein, K. M., primary, Bromhead, C. J., additional, Smith, K. R., additional, O'Callaghan, C. J., additional, Corcoran, S. J., additional, Heron, S. E., additional, Iona, X., additional, Hodgson, B. L., additional, McMahon, J. M., additional, Lawrence, K. M., additional, Scheffer, I. E., additional, Dibbens, L. M., additional, Bahlo, M., additional, and Berkovic, S. F., additional

Published
2013
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5. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Author

Scheffer, I. E., primary, Grinton, B. E., additional, Heron, S. E., additional, Kivity, S., additional, Afawi, Z., additional, Iona, X., additional, Goldberg-Stern, H., additional, Kinali, M., additional, Andrews, I., additional, Guerrini, R., additional, Marini, C., additional, Sadleir, L. G., additional, Berkovic, S. F., additional, and Dibbens, L. M., additional

Published
2012
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6. 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
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8. Sodium channel 1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

Author

Wallace, R. H., primary, Hodgson, B. L., additional, Grinton, B. E., additional, Gardiner, R. M., additional, Robinson, R., additional, Rodriguez-Casero, V., additional, Sadleir, L., additional, Morgan, J., additional, Harkin, L. A., additional, Dibbens, L. M., additional, Yamamoto, T., additional, Andermann, E., additional, Mulley, J. C., additional, Berkovic, S. F., additional, and Scheffer, I. E., additional

Published
2003
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9. Epileptic spasms are a feature ofDEPDC5mTORopathy

Author

Samuel F. Berkovic, Simone Mandelstam, Douglas E. Crompton, Matthew Zemel, Gemma L. Carvill, Amy L Schneider, Jacinta M McMahon, A. Simon Harvey, Julia Saykally, Joseph Sullivan, Brigid M. Regan, Saul A. Mullen, Katherine B. Howell, Leanne M. Dibbens, Heather C Mefford, Ingrid E. Scheffer, Richard J. Leventer, Carvill, GL, Crompton, DE, Regan, BM, McMahon, JM, Saykally, J, Zemel, M, Schneider, AL, Dibbens, L, Howell, KB, Mandelstam, S, Leventer, RJ, Harvey, AS, Mullen, SA, Berkovic, SF, Sullivan, J, Scheffer, IE, and Mefford, HC

Subjects
familial focal epilepsy, epileptic spasms, Bioinformatics, DEPDC5 mutations, Article, 03 medical and health sciences, Epilepsy, spasms, 0302 clinical medicine, medicine, Family history, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, Cortical dysplasia, medicine.disease, NPRL3, DEPDC5, 3. Good health, Epileptic spasms, Clinical research, Cohort, epilepsy, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

usc Refereed/Peer-reviewed Objective: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms. Methods: We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants. Results: We identified 3 patients with variants in DEPDC5 in the cohort of 130 patients with spasms. We also describe 3 additional patients with DEPDC5 alterations and epileptic spasms: 2 from a previously described family and a third ascertained by clinical testing. Overall, we describe 6 patients from 5 families with spasms and DEPDC5 variants; 2 arose de novo and 3 were familial. Two individuals had focal cortical dysplasia. Clinical outcome was highly variable. Conclusions: While recent molecular findings in epileptic spasms emphasize the contribution of de novo mutations, we highlight the relevance of inherited mutations in the setting of a family history of focal epilepsies. We also illustrate the utility of clinical diagnostic testing and detailed phenotypic evaluation in characterizing the constellation of phenotypes associated with DEPDC5 alterations. We expand this phenotypic spectrum to include epileptic spasms, aligning DEPDC5 epilepsies more with the recognized features of other mTORopathies.

Published
2015
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