questionsmedicales.fr
Maladies du système nerveux
Maladies du système nerveux central
Encéphalopathies
Épilepsie
Syndromes épileptiques
Épilepsies myocloniques
Épilepsies myocloniques : Questions médicales fréquentes
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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"position": 9,
"acceptedAnswer": {
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"text": "Oui, l'intensité et la fréquence des symptômes peuvent varier considérablement."
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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,
"acceptedAnswer": {
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}
},
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"name": "Les activités physiques sont-elles sûres ?",
"position": 15,
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}
},
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"position": 16,
"acceptedAnswer": {
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"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,
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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": {
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}
},
{
"@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."
}
},
{
"@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" :
Familial Adult Myoclonic Epilepsy (FAME) presents with action-activated myoclonus, often associated with epilepsy, sharing various features with Progressive Myoclonic Epilepsy (PMEs), but with slower ...
We analyzed the EEG-EMG coherence (CMC) during segmental motor activity and indexes of connectivity in the two patient groups, and in healthy subjects (HS). We also investigated the regional and globa...
In FAME2, differently from EPM1, we found a well-localized distribution of beta-CMC and increased betweenness-centrality (BC) on the sensorimotor region contralateral to the activated hand. In both pa...
In FAME2, better localized CMC and increased BC in comparison with EPM1 patients could counteract the severity and the spreading of the myoclonus. Decreased indexes of cortical integration were more s...
Our measures correlated with different motor disabilities and identified distinctive brain network impairments....
Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms, which vary depending ...
The differential diagnoses and frequent presentations leading to misdiagnosis of FAME were investigated from the available literature and reported based on an expert opinion survey....
The phenotypic features of FAME, including generalized tonic-clonic and myoclonic seizures, are also seen in other epilepsy syndromes, such as juvenile myoclonic epilepsy, with a resultant risk of mis...
Recognition of FAME will inform prognostic and genetic counseling and diagnosis of the insidious progression, which may occur in older individuals who show mild cognitive deterioration. Distinguishing...
This multicenter study aimed to evaluate the efficacy and tolerability of add-on cannabidiol (CBD) in treatment-resistant patients with epilepsy with myoclonic-atonic seizures (EMAtS) (n = 22) and Stu...
Patients who met the diagnostic criteria of treatment-resistant EMAtS or SWS with myoclonic-atonic seizures were included. Cannabidiol was added in doses ranging from 8 to 40 mg/kg/day. Efficacy was a...
After a mean follow-up of 19 months, 15/26 patients (57.7%) who received add-on CBD had a >50% seizure decrease; three (11.5%) became seizure-free. The remaining 11 patients (42.3%) had a 25-50% seizu...
This study evaluating the use of add-on CBD in children with EMAtS or SWS with myoclonic-atonic seizures found that 15/26 (57.7%) had a >50% seizure reduction with good tolerability; three (11.5%) bec...
Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant inheritance found around th...
In familial cortical myoclonic tremor with epilepsy, photic stimulation can trigger visual symptoms and induce a photoparoxysmal response, or photosensitivity, on electroencephalography. However, the ...
Resting-state functional magnetic resonance imaging and electroencephalography data were collected from 31 patients carrying the heterozygous pathogenic intronic pentanucleotide (TTTCA)n insertion in ...
(1) Both regional homogeneity and degree centrality values in the bilateral calcarine sulcus were significantly increased in patients compared with healthy controls. (2) When the calcarine sulcus area...
These findings provide strong evidence for the interpretation of visual symptoms and photosensitivity in familial cortical myoclonic tremor with epilepsy. We speculate that functional changes in the p...
The purpose of this study was to investigate the timing of generalized electroencephalographic abnormalities in patients with juvenile myoclonic epilepsy who were followed up long term before the onse...
The inositol polyphosphate 4-phosphatase intracellular signaling pathway is susceptible to genetic or epigenetic alterations that may result in major neurological illnesses with clinically significant...
A seven-year-old girl with pontocerebellar hypoplasia, resistant myoclonic epilepsy with axial hypotonia, microcephaly, atypical facial appearance, nystagmus, ophthalmoplegia, hyperactive tendon refle...
INPP4A mutations should be kept in mind in cases with severely delayed psychomotor development, progressive microcephaly, resistant myoclonic epilepsy, isolated cerebellum, and pons involvement....
Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly...
The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures...
The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide l...
Cortical tremor/myoclonus is the hallmark feature of benign adult familial myoclonic epilepsy (BAFME), the mechanism of which remains elusive. A hypothesis is that a defective control in the preexisti...
Nineteen patients with BAFME type 1 (BAFME1) and 30 matched healthy controls underwent T1-weighted and diffusion tensor imaging scans. FreeSurfer and spatially unbiased infratentorial template (SUIT) ...
Cerebellar atrophy and dentate nucleus alteration were observed in the patients. In addition, patients with BAFME1 exhibited reduced AD and FA in the left and right dentato-thalamo-M1 nondecussating f...
The present findings support the hypothesis that the cerebello-thalamo-M1 loop might be the structural basis of cortical tremor in BAFME1. The basal ganglia system also participates in BAFME1 and prob...
TRIT1 defect is a rare, autosomal-recessive disorder of transcription, initially described as a condition with developmental delay, myoclonic seizures, and abnormal mitochondrial function. Currently, ...