Last update 01 Nov 2024

Myoclonic Epilepsy, Juvenile

Last update 01 Nov 2024

Basic Info

Synonyms

Adolescent Myoclonic Epilepsy, EJM, EPILEPSY, MYOCLONIC JUVENILE

+ [52]

Introduction

A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)

Drugs associated with Myoclonic Epilepsy, Juvenile

Levetiracetam

Target

SV2A

Mechanism

SV2A modulators

Active Org.

Ratiopharm GmbH [+21]

Originator Org.

UCB SA

Active Indication

Epilepsia Partialis Continua [+10]

Inactive Indication

Acute repetitive seizure [+28]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date30 Nov 1999

MGCND00EP1

Target-

Mechanism-

Active Org.

Argent BioPharma Ltd.

Originator Org.

MGC Pharmaceuticals d.o.o

Active Indication

Drug Resistant Epilepsy

Inactive Indication

Myoclonic Epilepsy, Juvenile

Drug Highest PhasePhase 2

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Myoclonic Epilepsy, Juvenile

NCT04406948 / WithdrawnPhase 2

Randomized, Double Blind, Placebo Controlled, Parallel Design Phase II b Study of Safety and Efficacy of MGCND00EP1 as an Add on Treatment in Children and Adolescents With Resistant Epilepsies

EudraCT: 2018-003887-29
Objective:To evaluate the safety and efficacy of: MGCND00EP1 from MGC PHARMACEUTICALS d.o.o.
Study Design: Randomized, double blind, placebo controlled parallel grouped study Sample Size: 103 subjects Study Population: Children from 1 year to 18 years of age Comparator Product :Placebo solution, oral IMP Product : MGCND00EP1 (each ml of solution containing 100 mg of cannabidiol and 5 mg of (-)-trans-Δ9- tetrahydrocannabinol as active substance) from MGC PHARMACEUTICALS D.O.O.
According to dosing scheme up to 25 mg/kg BW per day or maximum daily dose 800 mg (whichever smaller) for 6 weeks titration and 6 weeks of treatment, oral administration

Start Date30 May 2024

Sponsor / Collaborator

MGC Pharmaceuticals d.o.o

CTRI/2024/04/065579 / Not yet recruitingPhase 2IIT

A clinical study on Aurokid Plus tablet as adjuvant therapy in the management of pediatric Myoclonic Epilepsy - A proof of concept - NIL

Start Date22 Apr 2024

Sponsor / Collaborator-

CTRI/2024/02/062352 / Not yet recruitingPhase 4IIT

Tele-school health led Epilepsy Smart Schools in India: An Implementation Initiative with Mixed Methods Assessment (Tele_ESSI). - Tele_ESSI

Start Date10 Feb 2024

Sponsor / Collaborator-

100 Clinical Results associated with Myoclonic Epilepsy, Juvenile

100 Translational Medicine associated with Myoclonic Epilepsy, Juvenile

0 Patents (Medical) associated with Myoclonic Epilepsy, Juvenile

1,405

Literatures (Medical) associated with Myoclonic Epilepsy, Juvenile

01 Dec 2024·Epilepsy & Behavior

Depression and stigma among a sample of Egyptian adolescents with epilepsy and their impact on antiseizure medications adherence

Article

Author: El-Sawy, Shereen ; Kishk, Nirmeen ; Magdy, Rehab ; Mohamed Fouad, Amr ; Soliman, Nourhan A ; Soliman, Nourhan A.

BACKGROUNDThe lifetime prevalence of epilepsy varies between 3.5 and 10.7 per 1000 individuals in developed countries, and from 0.9 to 74.4 per 1000 individuals in Asia, sub-Saharan Africa, and Latin America. In adolescents, the prevalence of epilepsy is estimated to be 1.5 to 2%.PURPOSEThe purpose of this study was to examine the clinical characteristics of adolescents with epilepsy (AWE) and highlight the differences between childhood-onset epilepsy and adolescent-onset epilepsy. Additionally, the study aimed to assess the level of self-stigma and depression, as well as their impact on adherence to antiseizure medication (ASMs).METHODSThis cross-sectional study was conducted at the Epilepsy Clinic at Kasr Al-Ainy Hospitals. Patients underwent a thorough evaluation of their seizure history, as well as completed the Adherence to Refills and Medications Scale (ARMS), Kilifi Stigma Scale for Epilepsy (KSSE), and Patient Health Questionnaire-9 (PHQ-9) to assess depression.RESULTSA total of 136 AWE were included in the study, consisting of 82 males and 54 females with a median age of 15 and an interquartile range of 13-17. Most patients (54 %) had focal onset seizures, while the remaining 46 % had generalized onset seizures. Of the total sample, 87 (64 %) achieved seizure control for at least one year and are currently taking ASMs. However, only 60 % of the patients were found to be adherent to their ASMs. Fourteen patients (17.2 %) met the criteria for drug-resistant epilepsy. Interestingly, patients with adolescent-onset epilepsy were significantly more adherent to their ASMs compared to those with childhood-onset epilepsy (P=0.01). Additionally, the adherent group had significantly lower scores on KSSE and PHQ-9 compared to the non-adherent group (P=<0.0001 for each). Furthermore, there was a positive correlation between scores on the KSSE and PHQ-9 (P<0.001).CONCLUSIONDepression and self-stigma are significant barriers to adherence among adolescents with epilepsy. These findings highlight the need to involve psychiatrists and epileptologists in epilepsy transition programs.

01 Nov 2024·Seizure: European Journal of Epilepsy

Unraveling the shared genetics of common epilepsies and general cognitive ability

Article

Author: Kutrolli, Gleda ; Fominykh, Vera ; Smeland, Olav B. ; Dale, Anders M ; van der Meer, Dennis ; Taubøll, Erik ; Andreassen, Ole A ; Bahrami, Shahram ; Hagen, Espen ; Heuser, Kjell ; Shadrin, Alexey A ; Andreassen, Ole A. ; Parker, Nadine ; O'Connell, Kevin S. ; Rahman, Zillur ; Shadrin, Alexey A. ; Frei, Oleksandr ; Ueland, Torill ; Dale, Anders M. ; Steen, Nils Eiel ; Smeland, Olav B ; O'Connell, Kevin S ; Karadag, Naz ; Djurovic, Srdjan

PURPOSECognitive impairment is prevalent among individuals with epilepsy, and increasing evidence indicates that genetic factors can underlie this relationship. However, the extent to which epilepsy subtypes differ in their genetic relationship with cognitive function, and information about the specific genetic variants involved remain largely unknown.METHODSWe investigated the genetic relationship between epilepsies and general cognitive ability (COG) using complementary statistical tools, including linkage disequilibrium score (LDSC) regression, MiXeR and conjunctional false discovery rate (conjFDR). We analyzed genome-wide association study data on COG (n = 269,867) and common epilepsies (n = 27,559 cases, 42,436 controls), including the broad phenotypes 'all epilepsy', focal epilepsies and genetic generalized epilepsies (GGE), as well as specific subtypes. We functionally annotated the identified loci using several biological resources and validated the results in independent samples.RESULTSUsing MiXeR, COG (11.2k variants) was estimated to be almost four times more polygenic than 'all epilepsy', GGE, juvenile myoclonic epilepsy (JME), and childhood absence epilepsy (CAE) (2.5k - 2.9k variants). The other epilepsy phenotypes were insufficiently powered for MiXeR analysis. We quantified extensive genetic overlap between COG and epilepsy types, but with varying negative genetic correlations (-0.23 to -0.04). COG was estimated to share 2.9k variants with both GGE and 'all epilepsy', and 2.3k variants with both JME and CAE. Using conjFDR, we identified 66 distinct loci shared between COG and epilepsies, including novel associations for GGE (27), 'all epilepsy' (5), JME (5) and CAE (5). The implicated genes were significantly expressed in multiple brain regions. The results were validated in independent samples (COG: p = 3.62 × 10^-7; 'all epilepsy': p = 2.58 × 10^-3).CONCLUSIONOur study further dissects the substantial genetic basis shared between epilepsies and COG and identifies novel shared loci. An improved understanding of the genetic relationship between epilepsies and COG may lead to the development of novel comorbidity-targeted epilepsy treatments.

01 Nov 2024·Canadian Association of Radiologists Journal

Correlative Assessment of Machine Learning-Based Cobb Angle Measurements and Human-Based Measurements in Adolescent Idiopathic and Congenital Scoliosis

Article

Author: Hosseinpour, Shahob ; Chen, Chaojun ; Wu, Yujie ; Doria, Andrea S. ; Shroff, Manohar ; Stott, Samantha M. ; Namdar, Khashayar ; Amirabadi, Afsaneh ; Khalvati, Farzad

Purpose: Scoliosis is a complex spine deformity with direct functional and cosmetic impacts on the individual. The reference standard for assessing scoliosis severity is the Cobb angle which is measured on radiographs by human specialists, carrying interobserver variability and inaccuracy of measurements. These limitations may result in lack of timely referral for management at a time the scoliotic deformity progression can be saved from surgery. We aimed to create a machine learning (ML) model for automatic calculation of Cobb angles on 3-foot standing spine radiographs of children and adolescents with clinical suspicion of scoliosis across 2 clinical scenarios (idiopathic, group 1 and congenital scoliosis, group 2). Methods: We retrospectively measured Cobb angles of 130 patients who had a 3-foot spine radiograph for scoliosis within a 10-year period for either idiopathic or congenital anomaly scoliosis. Cobb angles were measured both manually by radiologists and by an ML pipeline (segmentation-based approach—Augmented U-Net model with non-square kernels). Results: Our Augmented U-Net architecture achieved a Symmetric Mean Absolute Percentage Error (SMAPE) of 11.82% amongst a combined idiopathic and congenital scoliosis cohort. When stratifying for idiopathic and congenital scoliosis individually a SMAPE of 13.02% and 11.90% were achieved, respectively. Conclusion: The ML model used in this study is promising at providing automated Cobb angle measurement in both idiopathic scoliosis and congenital scoliosis. Nevertheless, larger studies are needed in the future to confirm the results of this study prior to translation of this ML algorithm into clinical practice.

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