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41 results on '"Vadlamudi, Lata"'

5. Mosaic variants detectable in blood extend the clinico-genetic spectrum of GLI3-related Hypothalamic Hamartoma

Author

Green, Timothy E., primary, Bennett, Mark F., additional, Immisch, Ilka, additional, Freeman, Jeremy L., additional, Klein, Karl Martin, additional, Kerrigan, John F., additional, Vadlamudi, Lata, additional, Heinzen, Erin L., additional, Scheffer, Ingrid E., additional, Harvey, A. Simon, additional, Rosenow, Felix, additional, Hildebrand, Michael S., additional, and Berkovic, Samuel F., additional

Published
2023
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10. Genetic epilepsy with febrile seizures plus: Refining the spectrum

Author

Zhang, Yue-Hua, Burgess, Rosemary, Malone, Jodie P., Glubb, Georgie C., Helbig, Katherine L., Vadlamudi, Lata, Kivity, Sara, Afawi, Zaid, Bleasel, Andrew, Grattan-Smith, Padraic, Grinton, Bronwyn E., Bellows, Susannah T., Vears, Danya F., Damiano, John A., Goldberg-Stern, Hadassa, Korczyn, Amos D., Dibbens, Leanne M., Ruzzo, Elizabeth K., Hildebrand, Michael S., Berkovic, Samuel F., and Scheffer, Ingrid E.

Published
2017
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14. Developing a gene panel for pharmacoresistant epilepsy : A review of epilepsy pharmacogenetics

Author

Rodriguez-Acevedo, Astrid J., Gordon, Louisa G., Waddell, Nicola, Hollway, Georgina, Vadlamudi, Lata, Rodriguez-Acevedo, Astrid J., Gordon, Louisa G., Waddell, Nicola, Hollway, Georgina, and Vadlamudi, Lata

Abstract

Evaluating genes involved in the pharmacodynamics and pharmacokinetics of epilepsy drugs is critical to better understand pharmacoresistant epilepsy. We reviewed the pharmacogenetics literature on six antiseizure medicines (carbamazepine, perampanel, lamotrigine, levetiracetam, sodium valproate and zonisamide) and compared the genes found with those present on epilepsy gene panels using a functional annotation pathway analysis. Little overlap was found between the two gene lists; pharmacogenetic genes are mainly involved in detoxification processes, while epilepsy panel genes are involved in cell signaling and gene expression. Our work provides support for a specific pharmacoresistant epilepsy gene panel to assist antiseizure medicine selection, enabling personalized approaches to treatment. Future efforts will seek to include this panel in genomic analyses of pharmacoresistant patients, to determine clinical utility and patient treatment responses.

Published
2021

17. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

Author

Berkovic, Samuel F., Dibbens, Leanne M., Oshlack, Alicia, Silver, Jeremy D., Katerelos, Marina, Vears, Danya F., Lullmann-Rauch, Renate, Blanz, Judith, Stankovich, Jim, Kalnins, Renate M., Dowling, John P., Andermann, Eva, Andermann, Frederick, Faldini, Enrico, D'Hooge, Rudi, Vadlamudi, Lata, Macdonell, Richard A., Hodgson, Bree L., Bayly, Marta A., Savige, Judy, Mulley, John C., Smyth, Gordon K., Power, David A., Saftig, Paul, and Bahlo, Melanie

Subjects
Myoclonus -- Genetic aspects, Myoclonus -- Causes of, DNA microarrays -- Analysis, Membrane proteins -- Health aspects, Membrane proteins -- Research, Genetic research, Biological sciences
Abstract

Array-based molecular strategies are employed to identify the gene responsible for the onset of action myoclonus-renal failure syndrome (AMRF). The myoclonus epilepsy and focal glomerulosclerosis is usually caused due to the deficiency of SCARB2/LIMP-2 protein in humans.

Published
2008

23. Women with epilepsy face a rollercoaster of hormones and seizures. But we're treating them like men.

Author

Vadlamudi, Lata

Subjects
EPILEPSY, SEIZURES (Medicine), HORMONE therapy, SUDDEN death, HORMONES, SCHOLARSHIPS
Abstract

Women with epilepsy experience fluctuations in hormones throughout their lives, which can affect the frequency of seizures. However, current treatments for epilepsy are the same for both men and women. It is important to tailor therapies for women with epilepsy to account for these hormonal changes. Hormones such as estrogen and progesterone play a role in the balance of electrical activity in the brain, and disruptions in this balance can lead to seizures. Research is needed to understand how hormonal fluctuations during different stages of a woman's life impact her epilepsy and quality of life. By addressing the specific triggers of women's seizures, the burden of the disease can be improved. [Extracted from the article]

Published
2024

27. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations

Author

Scheffer, Ingrid E, Heron, Sarah E, Regan, Brigid M, Mandelstam, Simone, Crompton, Douglas E, Hodgson, Bree L, Vadlamudi, Lata, Gecz, Jozef, Connelly, Alan, Ricos, Michael G, Berkovic, Samuel F, Dibbens, Leanne M., LICCHETTA, LAURA, PROVINI, FEDERICA, BISULLI, FRANCESCA, TINUPER, PAOLO, Scheffer, Ingrid E, Heron, Sarah E, Regan, Brigid M, Mandelstam, Simone, Crompton, Douglas E, Hodgson, Bree L, Licchetta, Laura, Provini, Federica, Bisulli, Francesca, Vadlamudi, Lata, Gecz, Jozef, Connelly, Alan, Tinuper, Paolo, Ricos, Michael G, Berkovic, Samuel F, and Dibbens, Leanne M

Subjects
Adult, Male, Young Adult, TOR Serine-Threonine Kinase, Mutation, Brain, Female, Epilepsies, Partial, Repressor Protein, Child, Human, Pedigree
Abstract

We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal epilepsy. Here we show that DEPDC5 mutations are associated with both lesional and nonlesional epilepsies, even within the same family. DEPDC5-associated malformations include bottom-of-the-sulcus dysplasia (3 members from 2 families), and focal band heterotopia (1 individual). DEPDC5 negatively regulates the mammalian target of rapamycin (mTOR) pathway, which plays a key role in cell growth. The clinicoradiological phenotypes associated with DEPDC5 mutations share features with the archetypal mTORopathy, tuberous sclerosis, raising the possibility of therapies targeted to this pathway.

Published
2014

28. Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Author

Yue-Hua Zhang, Burgess, Rosemary, Malone, Jodie P., Glubb, Georgie C., Helbig, Katherine L., Vadlamudi, Lata, Kivity, Sara, Afawi, Zaid, Bleasel, Andrew, Grattan-Smith, Padraic, Grinton, Bronwyn E., Bellows, Susannah T., Vears, Danya F., Damiano, John A., Goldberg-Stern, Hadassa, Korczyn, Amos D., Dibbens, Leanne M., Ruzzo, Elizabeth K., Hildebrand, Michael S., and Berkovic, Samuel F.

Published
2017
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29. Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

Author

Scheffer, Ingrid E., primary, Heron, Sarah E., additional, Regan, Brigid M., additional, Mandelstam, Simone, additional, Crompton, Douglas E., additional, Hodgson, Bree L., additional, Licchetta, Laura, additional, Provini, Federica, additional, Bisulli, Francesca, additional, Vadlamudi, Lata, additional, Gecz, Jozef, additional, Connelly, Alan, additional, Tinuper, Paolo, additional, Ricos, Michael G., additional, Berkovic, Samuel F., additional, and Dibbens, Leanne M., additional

Published
2014
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31. Reply

Author

Vadlamudi, Lata, primary, Harvey, A. Simon, additional, Hopper, John L., additional, Scheffer, Ingrid E., additional, and Berkovic, Samuel F., additional

Published
2005
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35. Genetics of epilepsy.

Author

Vadlamudi, Lata, Milne, Roger L., Lawrence, Kate, Heron, Sarah E., Eckhaus, Jazmin, Keay, Deborah, Connellan, Mary, Torn-Broers, Yvonne, Anne Howell, R., Mulley, John C., Scheffer, Ingrid E., Dibbens, Leanne M., Hopper, John L., and Berkovic, Samuel F.

Published
2014

36. Factors underlying scalp‐EEG interictal epileptiform discharges in intractable frontal lobe epilepsy

Author

Vadlamudi, Lata, So, Elson L., Worrell, Gregory A., Mosewich, Russell K., Cascino, Gregory D., Meyer, Fredric B., and Lesnick, Timothy G.

Abstract

Scalp‐EEG interictal epileptiform discharges (IEDs) may be less predictive of the outcome of frontal lobe epilepsy surgery than of temporal lobe epilepsy surgery. We identified factors associated with the location of scalp‐EEG IEDs in intractable frontal lobe epilepsy. Ten factors were assessed in a retrospective review of 53 patients with either concordant (frontal lobe seizure focus) or discordant (generalized or outside frontal seizure focus) IED or both, who had excellent surgical outcomes. The Fisher exact test and the Wilcoxon rank sum test determined statistically significant associations. Thirty‐six patients (68%) had concordant IED, 24 (45%) discordant IED, and 17 (32%) both. Younger age at onset was significantly associated with discordant IED (mean, 7.5 years versus17 years for patients without discordant IED; P< 0.01), whereas duration of epilepsy was not. Seizure foci at the frontal convexity were associated with concordant IED. About 72% of patients with a convexity seizure focus had concordant IED, compared with only 33% of patients with mesial frontal foci having concordant IED (P= 0.06). Early seizure onset in intractable frontal lobe epilepsy is associated with IEDs discordant with seizure focus. Frontal convexity seizure foci are more likely than mesial frontal seizure foci to be associated with concordant discharges.

Published
2004
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38. Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations.

Author

Dibbens, Leanne M., Lawrence, Kate M., Iona, Xenia, McMahon, Jacinta M., Murrell, Wayne, Mackay-Sim, Alan, Scheffer, Ingrid E., Berkovic, Samuel F., and Vadlamudi, Lata

Subjects
*GENETIC mutation, *SODIUM channels, *GENES, *GERM cells, *EMBRYOLOGY
Abstract

De novo mutations are a cause of sporadic disease, but little is known about the developmental timing of such mutations. We studied concordant and discordant monozygous twins with de novo mutations in the sodium channel α1 subunit gene (SCN1A) causing Dravet's syndrome, a severe epileptic encephalopathy. On the basis of our findings and the literature on mosaic cases, we conclude that de novo mutations in SCN1A may occur at any time, from the premorula stage of the embryo (causing disease in the subject) to adulthood (with mutations in the germ-line cells of parents causing disease in offspring). [ABSTRACT FROM AUTHOR]

Published
2010
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39. Genetics of epilepsy: The testimony of twins in the molecular era

Author

Roger L. Milne, Kate M. Lawrence, John C. Mulley, Samuel F. Berkovic, Yvonne Torn-Broers, Lata Vadlamudi, Ingrid E. Scheffer, Deborah Keay, Leanne M. Dibbens, Sarah E. Heron, Jazmin Eckhaus, R. Anne Howell, Mary Connellan, John L. Hopper, Vadlamudi, Lata, Milne, Roger L, Lawrence, Kate, Heron, Sarah, Eckhaus, Jazmin, Keay, Deborah, Connellan, Mary, Torn-Broers, Yvonne, Howell, R Anne, Mulley, John, Scheffer, Ingrid, Dibbens, Leanne, Hopper, John L, and Berkovic, Samuel F

Subjects
Male, medicine.medical_specialty, Concordance, Population, Benign Rolandic Epilepsy, Seizures, Febrile, Cohort Studies, Epilepsy, Molecular genetics, medicine, Twins, Dizygotic, Humans, Genetic Predisposition to Disease, education, Genetics, education.field_of_study, Syndrome, Twins, Monozygotic, medicine.disease, Twin study, Genetic architecture, Epilepsy syndromes, Epilepsy, Generalized, Female, Neurology (clinical), Epilepsies, Partial, Psychology
Abstract

Objective: Analysis of twins with epilepsy to explore the genetic architecture of specific epilepsies, to evaluate the applicability of the 2010 International League Against Epilepsy (ILAE) organization of epilepsy syndromes, and to integrate molecular genetics with phenotypic analyses. Methods: A total of 558 twin pairs suspected to have epilepsy were ascertained from twin registries (69%) or referral (31%). Casewise concordance estimates were calculated for epilepsy syndromes. Epilepsies were then grouped according to the 2010 ILAE organizational scheme. Molecular genetic information was utilized where applicable. Results: Of 558 twin pairs, 418 had confirmed seizures. A total of 534 twin individuals were affected. There were higher twin concordance estimates for monozygotic (MZ) than for dizygotic (DZ) twins for idiopathic generalized epilepsies (MZ = 0.77; DZ = 0.35), genetic epilepsy with febrile seizures plus (MZ = 0.85; DZ = 0.25), and focal epilepsies (MZ = 0.40; DZ = 0.03). Utilizing the 2010 ILAE scheme, the twin data clearly demonstrated genetic influences in the syndromes designated as genetic. Of the 384 tested twin individuals, 10.9% had mutations of large effect in known epilepsy genes or carried validated susceptibility alleles. Conclusions: Twin studies confirm clear genetic influences for specific epilepsies. Analysis of the twin sample using the 2010 ILAE scheme strongly supported the validity of grouping the “genetic” syndromes together and shows this organizational scheme to be a more flexible and biologically meaningful system than previous classifications. Successful selected molecular testing applied to this cohort is the prelude to future large-scale next-generation sequencing of epilepsy research cohorts. Insights into genetic architecture provided by twin studies provide essential data for optimizing such approaches.

Published
2014

40. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations

Author

Scheffer, Ingrid, Heron, Sarah E, Regan, Brigid M, Mandelstam, Simone, Crompton, Douglas E, Hodgson, Bree L, Licchetta, Laura, Provini, Federica, Bisulli, Francesca, Vadlamudi, Lata, Gecz, Jozef, Connelly, Alan, Tinuper, Paolo, Ricos, Michael G, Berkovic, Samuel F, and Dibbens, Leanne M

Subjects
focal epilepsy, DEPDC5, mutation
Abstract

We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal epilepsy. Here we show that DEPDC5 mutations are associated with both lesional and nonlesional epilepsies, even within the same family. DEPDC5-associated malformations include bottom-of-the-sulcus dysplasia (3 members from 2 families), and focal band heterotopia (1 individual). DEPDC5 negatively regulates the mammalian target of rapamycin (mTOR) pathway, which plays a key role in cell growth. The clinicoradiological phenotypes associated with DEPDC5 mutations share features with the archetypal mTORopathy, tuberous sclerosis, raising the possibility of therapies targeted to this pathway. Refereed/Peer-reviewed

Published
2014

41. Timing of de novo mutagenesis--a twin study of sodium-channel mutations

Author

Jacinta M McMahon, Xenia Iona, Samuel F. Berkovic, Ingrid E. Scheffer, Wayne Murrell, Leanne M. Dibbens, Lata Vadlamudi, Alan Mackay-Sim, Kate M. Lawrence, Vadlamudi, Lata, Dibbens, Leanne M, Lawrence, Kate M, Iona, X, McMahon, Jacinta M, Murrell, Wayne, Mackay-Sim, Alan, Scheffer, Ingrid E, and Berkovic, Samuel F

Subjects
Adult, Genetic Markers, Time Factors, Offspring, Mutagenesis (molecular biology technique), Epilepsies, Myoclonic, Nerve Tissue Proteins, medicine.disease_cause, Polymerase Chain Reaction, Sodium Channels, Frameshift mutation, Germline mutation, Dravet syndrome, medicine, Humans, Frameshift Mutation, Gene, Germ-Line Mutation, Genetics, Mutation, business.industry, Sodium channel, Infant, General Medicine, Sequence Analysis, DNA, Twins, Monozygotic, medicine.disease, de novo mutation, NAV1.1 Voltage-Gated Sodium Channel, Mutagenesis, Female, business, mutagenesis, sodium channel
Abstract

De novo mutations are a cause of sporadic disease, but little is known about the developmental timing of such mutations. We studied concordant and discordant monozygous twins with de novo mutations in the sodium channel α1 subunit gene (SCN1A) causing Dravet's syndrome, a severe epileptic encephalopathy. On the basis of our findings and the literature on mosaic cases, we conclude that de novo mutations in SCN1A may occur at any time, from the premorula stage of the embryo (causing disease in the subject) to adulthood (with mutations in the germ-line cells of parents causing disease in offspring). Refereed/Peer-reviewed

Published
2010

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