Museletter: September/October 2002

This Issue: In the Public Eye: Meet the Reference and Circulation Staff by James Wirrell Faculty and Students: Don\u27t Forget the Law Library\u27s Electronic Exam Site! Hein-On-Line Update Muse Library Facts Website of the Month: http://www.yourdictionary.com Meet Marcella! Lexis and Westlaw Updateshttps://scholarship.richmond.edu/museletter/1063/thumbnail.jp

Museletter: August 2002

This Issue: Welcome New and Returning Students by Timothy L. Coggins Electronic Reserves - Coming to a Computer Near You! Library Policy Reminder [Drink; cell phones] Library Fines - a Reminder! Muse Library Facts My Account on Voyager - Manager Your Library Account Onlinehttps://scholarship.richmond.edu/museletter/1062/thumbnail.jp

Museletter: December 2002

This Issue: B.N.A Services Online: Easier Access to Useful B.N.A. Titles by James Wirrell Winter Break Hours: Happy Holidays! Website of the Month -- Finding Basic British Law on the Internet Winter Closings Holiday Humorhttps://scholarship.richmond.edu/museletter/1065/thumbnail.jp

Museletter: November 2002

This Issue: Let\u27s Get Technical: Meet the Technical Services Staff by James Wirrell Exam Hours Website of the Month: Virginia General Assembly\u27s Legislative Information System (http://leg1.state.va.us/lis.htm) ID Please: Restricted Access to the Law Library During Exam Period Evenings for Certain Users Will Begin Again New Books Function on Library Catalog Lexis and Westlaw Updateshttps://scholarship.richmond.edu/museletter/1064/thumbnail.jp

Museletter: January/February 2003

This Issue: All Byte, No Bark: Meet the Computer Services Staff by James Wirrell with contributions by Paul Birch, Alison Merner & Kim Wiseman Recent Librarian Publications Moving Away... Winter Closings Hein-On-Line: Law Journals At Your Fingertips Law At The Movies: Catch Me If You Can by Gail Zwirnerhttps://scholarship.richmond.edu/museletter/1066/thumbnail.jp

Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies

A monogenic aetiology can be identified in up to 40% of people with severe epilepsy. To address earlier and more appropriate treatment strategies, clinicians are required to know the implications that specific genetic causes might have on pathophysiology, natural history, comorbidities and treatment choices. In this narrative review, we summarise concepts on the genetic epilepsies based on the underlying pathophysiological mechanisms and present the current knowledge on treatment options based on evidence provided by controlled trials or studies with lower classification of evidence. Overall, evidence robust enough to guide antiseizure medication (ASM) choices in genetic epilepsies remains limited to the more frequent conditions for which controlled trials and observational studies have been possible. Most monogenic disorders are very rare and ASM choices for them are still based on inferences drawn from observational studies and early, often anecdotal, experiences with precision therapies. Precision medicine remains applicable to only a narrow number of patients with monogenic epilepsies and may target only part of the actual functional defects. Phenotypic heterogeneity is remarkable, and some genetic mutations activate epileptogenesis through their developmental effects, which may not be reversed postnatally. Other genes seem to have pure functional consequences on excitability, acting through either loss- or gain-of-function effects, and these may have opposite treatment implications. In addition, the functional consequences of missense mutations may be difficult to predict, making precision treatment approaches considerably more complex than estimated by deterministic interpretations. Knowledge of genetic aetiologies can influence the approach to surgical treatment of focal epilepsies. Identification of germline mutations in specific genes contraindicates surgery while mutations in other genes do not. Identification, quantification and functional characterization of specific somatic mutations before surgery using cerebrospinal fluid liquid biopsy or after surgery in brain specimens, will likely be integrated in planning surgical strategies and re-intervention after a first unsuccessful surgery as initial evidence suggests that mutational load may correlate with the epileptogenic zone. Promising future directions include gene manipulation by DNA or mRNA targeting; although most are still far from clinical use, some are in early phase clinical development

A Case of Central Cord Syndrome Related Status Epilepticus - A Case Report -

Central cord syndrome (CCS) is extremely rare as a direct consequence of generalized epileptic seizure. CCS is associated with hyperextension of the spinal cord and has characteristic radiologic findings including posterior ligamentous injury and prevertebral hyperintensity following magnetic resonance imaging (MRI). We experienced the case of a 25-year-old man who suffered CCS after status epilepticus. Cervical spinal MRI revealed high signal intensity at the C1 level but with no signal or structural changes in other sites. After rehabilitation management, the patient significantly improved on the ASIA (American Spinal Injury Association) motor scale and bladder function. We proposed that epilepsy related CCS may be caused by muscle contractions during generalized seizure, which can induce traction injury of the spinal cord or relative narrowing of spinal canal via transient herniated nucleus pulposus or transient subluxation of vertebra. We also suggest CCS without radiologic findings of trauma has good prognosis compared with other CCS

3D figure of epilepsy syndromes

We propose an instructive figure that summarized the classification of epilepsy syndromes according to the 2022 report of the ILAE Task Force on Nosology and Definitions. Our aim is to present, in one figure, different concepts such as the names of epilepsy syndromes, their extreme and classical ages of onset, their epilepsy types (generalized, focal or generalized and focal) but also their membership in groups of epilepsy syndromes as for self-limited or developmental and epileptic encephalopathy. With this figure, we provided an interactive tool, as supplementary data, helping to present this classification and link it to electro-clinical mandatory, alerts and exclusionary criteria of each syndrome, in accordance with the ILAE position papers on syndromes classification and nosology. This report may be used as an illustrative tool for teaching epilepsy syndromes and as a practical and comprehensive aid for the classification of epilepsy individuals' syndromes

Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome

OBJECTIVE: To establish a standard framework for early phenotypic diagnosis, investigations, expected findings from investigations, evolution, effective therapies and prognosis in the syndrome of Epilepsy with myoclonic atonic seizures (EMAS) / Doose syndrome. METHODS: A core study group (CSG) interested in EMAS was convened. CSG then identified and nominated 15 experts in the field of EMAS. This expert panel (EP) from English speaking nations was invited to participate in anonymous questionnaires. A literature review was provided to them (supplement 1). Three rounds of questionnaires were sent to identify areas of consensus, strength of consensus and areas of contention. RESULTS: Strong consensus was obtained regarding the clinical phenotype of EMAS: myoclonic atonic seizure was identified among others as a mandatory seizure type with typical onset of afebrile seizures between one and six years. A new term "stormy phase" (SP) was designated to delineate a characteristic phenotypic evolution in EMAS patients associated with seizure worsening. Strong consensus regarding the existence and time of onset of the SP, mandatory investigations to be performed early and later in the clinical course of EMAS, first and second tier treatment and prognostic factors for poor outcome were identified. Areas of lack of consensus included some seizure types that are necessary to diagnose EMAS, interictal EEG findings that prognosticate the course of EMAS, overall duration of SP, time to complete remission, and best approach to treat drug resistant EMAS. SIGNIFICANCE: Expert consensus on core diagnostic criteria of EMAS necessary for natural history studies, phenotype-genotype correlations, and clinical trials including comparative studies was demonstrated. Areas of disagreements (especially prognostic features; treatment options) need further research

Response: Do all individuals with Dravet syndrome have intellectual disability?

No abstract available