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Article ; Online: Steps to Improve Precision Medicine in Epilepsy.

Balestrini, S / Mei, D / Sisodiya, S M / Guerrini, Renzo

2023 Volume 27, Issue 6, Page(s) 661–672

Abstract: ... of precision medicine is to provide effective strategies for treating individual patients with specific agent(s ...

Abstract	Precision medicine is an old concept, but it is not widely applied across human health conditions as yet. Numerous attempts have been made to apply precision medicine in epilepsy, this has been based on a better understanding of aetiological mechanisms and deconstructing disease into multiple biological subsets. The scope of precision medicine is to provide effective strategies for treating individual patients with specific agent(s) that are likely to work best based on the causal biological make-up. We provide an overview of the main applications of precision medicine in epilepsy, including the current limitations and pitfalls, and propose potential strategies for implementation and to achieve a higher rate of success in patient care. Such strategies include establishing a definition of precision medicine and its outcomes; learning from past experiences, from failures and from other fields (e.g. oncology); using appropriate precision medicine strategies (e.g. drug repurposing versus traditional drug discovery process); and using adequate methods to assess efficacy (e.g. randomised controlled trials versus alternative trial designs). Although the progress of diagnostic techniques now allows comprehensive characterisation of each individual epilepsy condition from a molecular, biological, structural and clinical perspective, there remain challenges in the integration of individual data in clinical practice to achieve effective applications of precision medicine in this domain.
MeSH term(s)	Humans ; Precision Medicine/methods ; Medical Oncology
Language	English
Publishing date	2023-09-27
Publishing country	New Zealand
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2232796-4
ISSN	1179-2000 ; 1177-1062
ISSN (online)	1179-2000
ISSN	1177-1062
DOI	10.1007/s40291-023-00676-9
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Zs.A 5202: Show issues

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Article ; Online: National compliance with UK wide guidelines for usage of valproate in women of childbearing potential.

Eriksson, S H / Tittensor, P / Sisodiya, S M

Seizure

2022 Volume 98, Page(s) 8–12

Abstract: Valproate (VPA) is an effective treatment for epilepsy and also used in bipolar disorder. However, VPA is associated with a significant risk of birth defects and developmental disorders if used during pregnancy. This has led to the introduction of ... ...

Abstract	Valproate (VPA) is an effective treatment for epilepsy and also used in bipolar disorder. However, VPA is associated with a significant risk of birth defects and developmental disorders if used during pregnancy. This has led to the introduction of measures to reduce the use of valproate in women of childbearing potential such as the 'Prevent' pregnancy prevention program (PPP) and the completion of an annual risk acknowledgement form (ARAF). The aim of the current audit was to assess compliance with the guidance. An audit tool was made available to neurologists registered with the Association of British Neurologists (ABN) and to epilepsy nurse specialists via the Epilepsy Nurses Association (ESNA) in the UK. Data were collected between November 2020 and March 2021. The main indication for valproate was generalised epilepsy (55.8%), followed by focal (22.5%). For most, there was documentation that the woman had been informed about the risks associated with taking valproate during pregnancy (93.1%) and the need to be on highly effective contraception or that this was not deemed appropriate (92.2%). A signed ARAF was available in the notes for 81.2% although only 66% were <12 months old. Although information had been made available for most women, there were still individuals where this was not documented. Further work is needed to facilitate identification of women taking valproate and implementation of a digital ARAF. For clinicians, the audit highlights a need to carefully counsel women about the teratogenic risks of continuing to take valproate versus the risk of deteriorating seizure control if the drug is withdrawn. This is particularly true of women with focal epilepsy, where there may be safer, equally effective, alternative anti-seizure medication (ASM). The aim should be to create a partnership of trust between the patient and clinician in order to arrive at the best clinical decision for that individual.
MeSH term(s)	Anticonvulsants/adverse effects ; Epilepsies, Partial/drug therapy ; Epilepsy/drug therapy ; Female ; Humans ; Infant ; Pregnancy ; United Kingdom ; Valproic Acid/adverse effects
Chemical Substances	Anticonvulsants ; Valproic Acid (614OI1Z5WI)
Language	English
Publishing date	2022-03-30
Publishing country	England
Document type	Journal Article
ZDB-ID	1137610-7
ISSN	1532-2688 ; 1059-1311
ISSN (online)	1532-2688
ISSN	1059-1311
DOI	10.1016/j.seizure.2022.03.020
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Zs.A 3573: Show issues

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Article ; Online: SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.

Pagni, Susanna / Custodio, Helena Martins / Frankish, Adam / Mudge, Jonathan M / Mills, James D / Sisodiya, Sanjay M

Human molecular genetics

2024 Volume 32, Issue 10, Page(s) 1753–1763

Abstract: Pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene are responsible for multiple epilepsy phenotypes, including Dravet syndrome, febrile seizures (FS) and genetic epilepsy with FS plus. Phenotypic heterogeneity is a ... ...

Abstract	Pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene are responsible for multiple epilepsy phenotypes, including Dravet syndrome, febrile seizures (FS) and genetic epilepsy with FS plus. Phenotypic heterogeneity is a hallmark of SCN1A-related epilepsies, the causes of which are yet to be clarified. Genetic variation in the non-coding regulatory regions of SCN1A could be one potential causal factor. However, a comprehensive understanding of the SCN1A regulatory landscape is currently lacking. Here, we summarized the current state of knowledge of SCN1A regulation, providing details on its promoter and enhancer regions. We then integrated currently available data on SCN1A promoters by extracting information related to the SCN1A locus from genome-wide repositories and clearly defined the promoter and enhancer regions of SCN1A. Further, we explored the cellular specificity of differential SCN1A promoter usage. We also reviewed and integrated the available human brain-derived enhancer databases and mouse-derived data to provide a comprehensive computationally developed summary of SCN1A brain-active enhancers. By querying genome-wide data repositories, extracting SCN1A-specific data and integrating the different types of independent evidence, we created a comprehensive catalogue that better defines the regulatory landscape of SCN1A, which could be used to explore the role of SCN1A regulatory regions in disease.
MeSH term(s)	Humans ; Mice ; Animals ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Epilepsies, Myoclonic/genetics ; Epilepsy/genetics ; Promoter Regions, Genetic ; Phenotype ; Seizures, Febrile/genetics ; Mutation
Chemical Substances	NAV1.1 Voltage-Gated Sodium Channel ; SCN1A protein, human ; Scn1a protein, mouse
Language	English
Publishing date	2024-04-17
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddad015
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Zs.A 3469: Show issues

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Article ; Online: Climate change: Attitudes and concerns of, and learnings from, people with neurological conditions, carers, and health care professionals.

Blenkinsop, Stephen / Wardrope, Alistair / Willis, Joseph / Sisodiya, Sanjay M

Epilepsia

2023 Volume 65, Issue 1, Page(s) 95–106

Abstract: Objective: Concern about climate change among the general public is acknowledged by surveys. The health care sector must play its part in reducing greenhouse gas emissions and adapting to a changing climate, which will require the support of its ... ...

Abstract	Objective: Concern about climate change among the general public is acknowledged by surveys. The health care sector must play its part in reducing greenhouse gas emissions and adapting to a changing climate, which will require the support of its stakeholders including those with epilepsy, who may be especially vulnerable. It is important to understand this community's attitudes and concerns about climate change and societal responses. Methods: A survey was made available to more than 100 000 people among a section of the neurological community (patients, carers, and clinicians), focused on epilepsy. We applied quantitative analysis of Likert scale responses supported by qualitative analyses of free-text questions with crossover analyses to identify consonance and dissonance between the two approaches. Results: A small proportion of potential respondents completed the survey; of 126 respondents, 52 had epilepsy and 56 explicitly declared no illness. The survey indicated concern about the impact of climate change on health within this neurological community focused on epilepsy. More than half of respondents considered climate change to have been bad for their health, rising to 68% in a subgroup with a neurological condition; over 80% expected climate change to harm their health in future. Most (>75%) believed that action to reduce greenhouse gas emissions will lead to improved health and well-being. The crossover analysis identified cost and accessibility as significant barriers. Significance: The high level of concern about climate change impacts and positive attitudes toward policies to reduce greenhouse gas emissions provide support for climate action from the epilepsy community. However, if policies are implemented without considering the needs of patients, they risk being exclusionary, worsening inequalities, and further threatening neurological health and well-being.
MeSH term(s)	Humans ; Climate Change ; Caregivers ; Greenhouse Gases ; Health Personnel ; Epilepsy/epidemiology
Chemical Substances	Greenhouse Gases
Language	English
Publishing date	2023-12-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	216382-2
ISSN	1528-1167 ; 0013-9580
ISSN (online)	1528-1167
ISSN	0013-9580
DOI	10.1111/epi.17824
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Zs.A 517: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 475: Show issues

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Article: Case report: Dravet syndrome, feeding difficulties and gastrostomy.

Clayton, Lisa M / Williams, Edwina / Balestrini, Simona / Sisodiya, Sanjay M

Frontiers in neurology

2022 Volume 13, Page(s) 993906

Abstract: Dravet syndrome (DS) is a developmental and epileptic encephalopathy associated with variants in the voltage-gated sodium channel alpha 1 subunit ( ...

Abstract	Dravet syndrome (DS) is a developmental and epileptic encephalopathy associated with variants in the voltage-gated sodium channel alpha 1 subunit (
Language	English
Publishing date	2022-09-13
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2022.993906
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Article ; Online: Natural resource-derived NiO nanoparticles via aloe vera for high-performance symmetric supercapacitor.

Bulla, Mamta / Kumar, Vinay / Devi, Raman / Kumar, Sunil / Sisodiya, Avnish Kumar / Dahiya, Rita / Mishra, Ajay Kumar

Scientific reports

2024 Volume 14, Issue 1, Page(s) 7389

Abstract: ... were performed using a 2 M KOH electrolyte within a 1.0 V potential window. Impressively, the single ...

Abstract	This investigation reported a one-step green synthesis of nickel oxide nanoparticles (NiO NPs) using aloe vera leaves extract solution for their application in a supercapacitor. This method used aloe vera leaves as a reducing agent, which is very simple and cost-effective. The synthesized NPs were thoroughly characterized using various techniques. The X-ray diffraction analysis unequivocally confirmed the crystalline nature; field emission scanning electron microscopy and transmission electron microscopy images showed different shapes and forms of an agglomerated cluster of synthesized NPs. The absorption spectra were recorded from UV visible spectroscopy, while Fourier transform infrared spectroscopy provided insights into the functional groups present. Electrochemical assessments were carried out via cyclic voltammetry, galvanostatic charging-discharging and electrochemical impedance spectroscopy. These experiments were performed using a 2 M KOH electrolyte within a 1.0 V potential window. Impressively, the single electrode displayed a remarkable specific capacitance of 462 F g
Language	English
Publishing date	2024-03-28
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-024-57606-w
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Article ; Online: Rare and Complex Epilepsies from Childhood to Adulthood: Requirements for Separate Management or Scope for a Lifespan Holistic Approach?

Balestrini, Simona / Guerrini, Renzo / Sisodiya, Sanjay M

Current neurology and neuroscience reports

2021 Volume 21, Issue 12, Page(s) 65

Abstract: Purpose: In this descriptive review, we describe current models of transition in rare and complex epilepsy syndromes and propose alternative approaches for more holistic management based on disease biology.: Recent findings: Previously published ... ...

Abstract	Purpose: In this descriptive review, we describe current models of transition in rare and complex epilepsy syndromes and propose alternative approaches for more holistic management based on disease biology. Recent findings: Previously published guidance and recommendations on transition strategies in individuals with epilepsy have not been systematically and uniformly applied. There is significant heterogeneity in models of transition/transfer of care across countries and even within the same country. We provide examples of the most severe epilepsy and related syndromes and emphasise the limited data on their outcome in adulthood. Rare and complex epilepsy syndromes have unique presentations and require high levels of expertise and multidisciplinary approach. Lifespan clinics, with no transition, but instead continuity of care from childhood to adulthood with highly specialised input from healthcare providers, may represent an alternative effective approach. Effectiveness should be measured by evaluation of quality of life for both patients and their families/caregivers.
MeSH term(s)	Adolescent ; Adult ; Caregivers ; Child ; Epilepsy/therapy ; Epileptic Syndromes ; Humans ; Longevity ; Quality of Life ; Young Adult
Language	English
Publishing date	2021-11-24
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2057363-7
ISSN	1534-6293 ; 1528-4042
ISSN (online)	1534-6293
ISSN	1528-4042
DOI	10.1007/s11910-021-01154-7
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Zs.A 5549: Show issues

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Article: Molecular basis of epigenetic regulation in cancer diagnosis and treatment.

Tulsyan, Sonam / Aftab, Mehreen / Sisodiya, Sandeep / Khan, Asiya / Chikara, Atul / Tanwar, Pranay / Hussain, Showket

Frontiers in genetics

2022 Volume 13, Page(s) 885635

Abstract: ... of the key epigenetic mechanism(s), and their deregulation in cancer etiology have been discussed to decipher ...

Abstract	The global cancer cases and mortality rates are increasing and demand efficient biomarkers for accurate screening, detection, diagnosis, and prognosis. Recent studies have demonstrated that variations in epigenetic mechanisms like aberrant promoter methylation, altered histone modification and mutations in ATP-dependent chromatin remodelling complexes play an important role in the development of carcinogenic events. However, the influence of other epigenetic alterations in various cancers was confirmed with evolving research and the emergence of high throughput technologies. Therefore, alterations in epigenetic marks may have clinical utility as potential biomarkers for early cancer detection and diagnosis. In this review, an outline of the key epigenetic mechanism(s), and their deregulation in cancer etiology have been discussed to decipher the future prospects in cancer therapeutics including precision medicine. Also, this review attempts to highlight the gaps in epigenetic drug development with emphasis on integrative analysis of epigenetic biomarkers to establish minimally non-invasive biomarkers with clinical applications.
Language	English
Publishing date	2022-08-24
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2022.885635
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Article ; Online: Audit of use of stiripentol in adults with Dravet syndrome.

Balestrini, S / Sisodiya, S M

Acta neurologica Scandinavica

2016 Volume 135, Issue 1, Page(s) 73–79

Abstract: Objectives: There are very few data available in the literature on the use of stiripentol in adults with Dravet syndrome (DS). DS cases are increasingly recognized in adulthood, and more children with DS now survive to adulthood. The aim of the study ... ...

Abstract	Objectives: There are very few data available in the literature on the use of stiripentol in adults with Dravet syndrome (DS). DS cases are increasingly recognized in adulthood, and more children with DS now survive to adulthood. The aim of the study was to document the effectiveness and tolerability of stiripentol in adults with DS. Material and methods: We conducted an observational clinical audit in the epilepsy service of the National Hospital for Neurology and Neurosurgery, London (UK). Results: We included 13 adult subjects with DS (eight females, five males). The responder (defined as more than 50% reduction in all seizure types) rate was 3/13 (23%) at 36 months. The following other outcomes were reported: seizure exacerbation (3/13, 23%), no change (3/13, 23%), less than 50% reduction in seizures (2/13, 15%), more than 50% reduction in generalized tonic-clonic seizures but no other seizure types (1/13, 8%), undefined response (1/13, 8%). The retention rate was 62% after 1 year and 31% after 5 years. Adverse effects were reported in 7/13 (54%): the most frequent were anorexia, weight loss, unsteadiness and tiredness. Withdrawal due to adverse effects occurred in 3/13 (23%). Conclusions: Compared with previous studies on children with DS, our results show a lower responder rate and a similar tolerability profile. Stiripentol can be effective with a good tolerability profile. Our audit is small, but supports the use of stiripentol in adults with DS when first-line treatments are ineffective or not tolerated, in keeping with published guidelines.
MeSH term(s)	Adolescent ; Adult ; Anticonvulsants/adverse effects ; Anticonvulsants/therapeutic use ; Child ; Child, Preschool ; Dioxolanes/adverse effects ; Dioxolanes/therapeutic use ; Epilepsies, Myoclonic/drug therapy ; Epilepsies, Myoclonic/genetics ; Female ; Humans ; Male ; Mutation ; NAV1.1 Voltage-Gated Sodium Channel/genetics
Chemical Substances	Anticonvulsants ; Dioxolanes ; NAV1.1 Voltage-Gated Sodium Channel ; SCN1A protein, human ; stiripentol (R02XOT8V8I)
Language	English
Publishing date	2016-05-27
Publishing country	Denmark
Document type	Journal Article ; Observational Study
ZDB-ID	90-5
ISSN	1600-0404 ; 0001-6314
ISSN (online)	1600-0404
ISSN	0001-6314
DOI	10.1111/ane.12611
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Ui I Zs.142: Show issues

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Article: Fracture resistance to treated teeth using known endodontics techniques in Indian patients.

Batra, Renu / Sisodiya, Mallwika / Kumari, Puja / Kaur, Sunpreet / Patil, Prajakta B / Bhagat, Shresth Kumar

Bioinformation

2022 Volume 18, Issue 3, Page(s) 184–187

Abstract: Teeth with crown structure less than 50% can be restored. Therefore, it is of interest to evaluate an in vitro efficacy of Zirconia post, Glass fiber post, polyethylene-woven fiber posts, and Quartz posts. Forty eight recently extracted mandibular first ... ...

Abstract	Teeth with crown structure less than 50% can be restored. Therefore, it is of interest to evaluate an in vitro efficacy of Zirconia post, Glass fiber post, polyethylene-woven fiber posts, and Quartz posts. Forty eight recently extracted mandibular first premolar teeth were randomly grouped in to 4 different groups with 12 samples in each group. After endodontic treatment samples in all groups underwent post preparation followed by restoration with respective posts. The mean fracture resistance (Newton) were 463.5 ± 14.3 (Group I) 425.2± 23.5 (group II), 410.4± 18.6 (Group 3) and 385.2 ± 14.2 (group 4). Data shows that Zirconia post had highest fracture resistance compared to other tested groups.
Language	English
Publishing date	2022-03-31
Publishing country	Singapore
Document type	Journal Article
ZDB-ID	2203786-X
ISSN	0973-2063
ISSN	0973-2063
DOI	10.6026/97320630018184
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