questionsmedicales.fr
Maladies du système nerveux
Maladies du système nerveux central
Encéphalopathies
Épilepsie
Syndromes épileptiques
Épilepsies myocloniques
Épilepsies myocloniques : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Épilepsie
Électroencéphalographie
Crises épileptiques
Symptômes neurologiques
Électroencéphalographie
Épilepsie
Symptômes
5
Myoclonies
Crises épileptiques
Myoclonies
Symptômes neurologiques
Crises épileptiques
Épilepsie
Épilepsie
Variabilité des symptômes
Crises nocturnes
Épilepsie
Prévention
5
Prévention des crises
Épilepsie
Déclencheurs de crises
Stress
Éducation des patients
Épilepsie
Activité physique
Sécurité
Traitements
5
Anticonvulsivants
Traitement de l'épilepsie
Thérapie comportementale
Diète cétogène
Évaluation du traitement
Épilepsie
Traitement à long terme
Épilepsie
Effets secondaires
Anticonvulsivants
Complications
5
Complications
Troubles psychologiques
Soutien psychologique
Thérapies
Facteurs de risque
5
Facteurs de risque
Traumatismes crâniens
Troubles neurologiques
Épilepsie
Stress
Déclencheurs de crises
Infections cérébrales
Méningite
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"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
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"@type": "Question",
"name": "Les myoclonies sont-elles douloureuses ?",
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"acceptedAnswer": {
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}
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"@type": "Question",
"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 9,
"acceptedAnswer": {
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"name": "Les crises peuvent-elles survenir la nuit ?",
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"position": 11,
"acceptedAnswer": {
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}
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{
"@type": "Question",
"name": "Quels déclencheurs sont à éviter ?",
"position": 12,
"acceptedAnswer": {
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"text": "Le stress, la fatigue, et la consommation d'alcool peuvent déclencher des crises."
}
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{
"@type": "Question",
"name": "L'éducation est-elle importante pour la prévention ?",
"position": 13,
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"name": "Le suivi médical est-il essentiel ?",
"position": 14,
"acceptedAnswer": {
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}
},
{
"@type": "Question",
"name": "Les activités physiques sont-elles sûres ?",
"position": 15,
"acceptedAnswer": {
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"text": "Certaines activités peuvent être sûres, mais il faut éviter les sports à risque."
}
},
{
"@type": "Question",
"name": "Quels médicaments sont utilisés pour traiter ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les anticonvulsivants comme le valproate et le lamotrigine sont couramment prescrits."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements non médicamenteux ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des approches comme la thérapie comportementale et la diététique peuvent aider."
}
},
{
"@type": "Question",
"name": "Comment évaluer l'efficacité du traitement ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'efficacité est évaluée par la réduction des crises et les effets secondaires."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils à vie ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Souvent, le traitement est à long terme, mais certains peuvent réduire ou arrêter."
}
},
{
"@type": "Question",
"name": "Quels effets secondaires des médicaments ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les effets secondaires peuvent inclure fatigue, vertiges et troubles gastro-intestinaux."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des blessures dues aux crises et des troubles psychologiques."
}
},
{
"@type": "Question",
"name": "L'épilepsie myoclonique peut-elle affecter la vie quotidienne ?",
"position": 22,
"acceptedAnswer": {
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"text": "Oui, elle peut impacter la vie sociale, professionnelle et la qualité de vie."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de dépression ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes épileptiques ont un risque plus élevé de dépression et d'anxiété."
}
},
{
"@type": "Question",
"name": "Les crises peuvent-elles entraîner des accidents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les crises peuvent provoquer des accidents, notamment lors de la conduite."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications psychologiques ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un soutien psychologique et des thérapies adaptées peuvent aider à gérer ces complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux, les traumatismes crâniens et certaines infections sont des facteurs."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il le risque d'épilepsie myoclonique ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'épilepsie myoclonique peut débuter à tout âge, mais souvent dans l'enfance ou l'adolescence."
}
},
{
"@type": "Question",
"name": "Les troubles neurologiques augmentent-ils le risque ?",
"position": 28,
"acceptedAnswer": {
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"text": "Oui, d'autres troubles neurologiques peuvent augmenter le risque d'épilepsie myoclonique."
}
},
{
"@type": "Question",
"name": "Le stress est-il un facteur de risque ?",
"position": 29,
"acceptedAnswer": {
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"text": "Oui, le stress peut déclencher des crises chez les personnes prédisposées."
}
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{
"@type": "Question",
"name": "Les infections cérébrales sont-elles un risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections, comme la méningite, peuvent augmenter le risque d'épilepsie."
}
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]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 23/04/2025
Contenu vérifié selon les dernières recommandations médicales
10 publications dans cette catégorie
Affiliations :
IRCCS Istituto "Giannina Gaslini", Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
9 publications dans cette catégorie
Affiliations :
Department of Neurology, Drammen Hospital, Vestre Viken Health Trust, Oslo, Norway.
9 publications dans cette catégorie
Affiliations :
Department of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, UK.
MRC Centre for Neurodevelopmental Disorders, King's College London, UK.
King's College Hospital, London, UK.
Evelina London Children's Hospital, London, UK.
7 publications dans cette catégorie
6 publications dans cette catégorie
Affiliations :
Department of Neurology, Drammen Hospital, Vestre Viken Health Trust, Oslo, Norway.
University of Oslo, Oslo, Norway.
6 publications dans cette catégorie
Affiliations :
Department of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
6 publications dans cette catégorie
Affiliations :
Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Haeundae-ro 875, Haeundae-gu, Busan, 48108, Republic of Korea. smilepkm@hanmail.net.
5 publications dans cette catégorie
Affiliations :
Department of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, UK.
MRC Centre for Neurodevelopmental Disorders, King's College London, UK.
Publications dans "Épilepsies myocloniques" :
5 publications dans cette catégorie
Affiliations :
Cardiff & Vale University Health Board, UK.
Publications dans "Épilepsies myocloniques" :
5 publications dans cette catégorie
Affiliations :
Department of Clinical & Experimental Medicine, Pisa University Hospital, Italy.
Publications dans "Épilepsies myocloniques" :
5 publications dans cette catégorie
Affiliations :
Department of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, UK.
MRC Centre for Neurodevelopmental Disorders, King's College London, UK.
King's College Hospital, London, UK.
Publications dans "Épilepsies myocloniques" :
4 publications dans cette catégorie
Affiliations :
Toronto Western Hospital, Canada.
Publications dans "Épilepsies myocloniques" :
4 publications dans cette catégorie
Affiliations :
Odense University Hospital, Odense, Denmark.
Publications dans "Épilepsies myocloniques" :
4 publications dans cette catégorie
Affiliations :
Division of Paediatric Neurology, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Publications dans "Épilepsies myocloniques" :
4 publications dans cette catégorie
Affiliations :
Odense University Hospital, Odense, Denmark.
Publications dans "Épilepsies myocloniques" :
4 publications dans cette catégorie
Affiliations :
Nationwide Children's Hospital, Ohio.
Publications dans "Épilepsies myocloniques" :
4 publications dans cette catégorie
Affiliations :
Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Publications dans "Épilepsies myocloniques" :
4 publications dans cette catégorie
Affiliations :
Danish Epilepsy Centre, Dianalund, Denmark.
University of Copenhagen, Denmark.
Publications dans "Épilepsies myocloniques" :
4 publications dans cette catégorie
Affiliations :
Department of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital, Norway.
National Centre for Epilepsy, Oslo University Hospital, Norway.
Publications dans "Épilepsies myocloniques" :
4 publications dans cette catégorie
Affiliations :
Newcastle upon Tyne NHS Foundation Trust, Newcastle, UK.
Publications dans "Épilepsies myocloniques" :
Genetic counseling is a relatively young profession that has advanced rapidly over the last 50 years. The term "genetic counseling" was first coined by Sheldon Reed in 1947 to describe the advice he w...
Prenatal genetic testing can be divided into two categories: screening and diagnostic. This article will focus on reviewing prenatal genetic screening tests....
Cell-free DNA (cfDNA) is a new prenatal genetic screening test with a high degree of accuracy for identifying certain genetic conditions like trisomy 21, 18, and 13. However, cfDNA has also been appli...
Prenatal genetic screening evaluates at risk pregnancies - including both carrier screening, which can be done at any point in a person's life, and aneuploidy screening, which is done during pregnancy...
Prenatal genetic testing can be divided into two categories: screening and diagnosis. Prenatal genetic screening tests are used to assess carrier status or as a fetal risk assessment for a particular ...
Next generation sequencing (NGS) has revolutionized prenatal genetic diagnostic testing. NGS methods are becoming more advanced and accurate as more genetic information is being linked to genetic cond...
Prenatal genetic diagnostic testing involves clinicians invasively obtaining tissue via amniocentesis or chorionic villus sampling to identify if a fetus has a genetic condition. This testing has trad...
Elective genetic testing (EGT) to identify disease risk in individuals who may or may not meet clinical criteria for testing is increasingly being offered in clinical practice. However, little is know...
Genetic testing for persons with Parkinson's disease is becoming increasingly common. Significant gains have been made regarding genetic testing methods, and testing is becoming more readily available...
There are thousands of different clinical genetic tests currently available. Genetic testing and its applications continue to change rapidly for multiple reasons. These reasons include technological a...
This article considers a number of key issues and axes related to the current and future state of clinical genetic testing, including targeted versus broad testing, simple/Mendelian versus polygenic a...
Genetic testing is expanding and evolving, including into new clinical applications. Developments in the field of genetics will likely result in genetic testing becoming increasingly in the purview of...
Implementation of genetic testing in healthcare increases, but access to, and number of, genetics providers remain scarce. This study analyzed the impact of genetic counselor (GC) involvement on frequ...
To evaluate the feasibility and impact of offering genetic testing and counseling to patients with Parkinson's disease (PD), with the potential to enroll in gene-targeted clinical trials and improve c...
A multicenter, exploratory pilot study at 7 academic hospital sites in the United States tracked enrollment and randomized participants to receive results and genetic counseling at local sites or by g...
From September 5, 2019 to January 4, 2021, 620 participants were enrolled and 387 completed outcome surveys. There were no significant differences in outcomes between local and remote sites, with both...
Local clinicians, as well as genetic counselors, with educational support as needed, can effectively return genetic results for PD as we observed favorable outcome measures in both groups. Increasing ...
Clinical guidelines recommend genetic testing when evaluating congenital and late-onset sensorineural hearing loss (SNHL). Genetic diagnoses can provide parents additional information regarding antici...
We included children ages 0-18 years with SNHL who were hearing aid or cochlear implant candidates but non-users and underwent hearing-loss gene panel testing prior to initiating intervention. Univari...
Of the 385 children with SNHL who underwent hearing loss gene panel testing, 111 were included. Median age was 7.5 years. 56% were underrepresented minorities, 71% were non-White, and 71% were publicl...
Up to half of children with SNHL are suspected to have an underlying genetic etiology. Children diagnosed with a genetic diagnosis are significantly more likely to subsequently utilize hearing aids or...
4 Laryngoscope, 133:1982-1986, 2023....
Leukodystrophies are monogenic disorders primarily affecting the white matter. We aimed to evaluate the utility of genetic testing and time-to-diagnosis in a retrospective cohort of children with susp...
Medical records of patients who attended the leukodystrophy clinic at the Dana-Dwek Children's Hospital between June 2019 and December 2021 were retrieved. Clinical, molecular, and neuroimaging data w...
Sixty-seven patients (Female/Male ratio 35/32) were included. Median age at symptom onset was 9 months (interquartile range (IQR) 3-18 months), and median length of follow-up was 4.75 years (IQR 3-8.5...
NGS carries the highest diagnostic yield in children with suspected leukodystrophy. Access to advanced sequencing technologies accelerates speed to diagnosis, which is increasingly crucial as targeted...