Epileptic DisordersPub Date : 2024-03-27DOI: 10.1684/j.1950-6945.2001.tb00459.x
R. Wiest, K. Schindler, M. Kollar, F. Donati
{"title":"Epigastric sensations as an unusual manifestation of adult absence epilepsy","authors":"R. Wiest, K. Schindler, M. Kollar, F. Donati","doi":"10.1684/j.1950-6945.2001.tb00459.x","DOIUrl":"https://doi.org/10.1684/j.1950-6945.2001.tb00459.x","url":null,"abstract":"We report the case of a 39‐year‐old woman with onset of daily epigastric sensations associated with brief episodes of unresponsive blank stare, which have been interpreted as complex partial seizures with occasional secondary generalisation. Phenytoin as monotherapy and in combination with valproate had not been effective. During video‐EEG we recorded typical absences with brief 3 second spike, and slow‐wave discharges of up to 5 seconds, which were recognized by the patient herself. All absences were preceded by epigastric sensations. There was no indication of focal epilepsy. Monotherapy with valproate substantially decreased the frequency of the absences. In conclusion, this case is peculiar for several reasons: 1) late onset of absence epilepsy, 2) epigastric sensation at onset of absence seizures, 3) recognition of brief “phantom” absences and 4) presumable adverse effects of phenytoin.","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140312958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epileptic DisordersPub Date : 2024-03-27DOI: 10.1684/j.1950-6945.2001.tb00416.x
Pascal Sabouraud
{"title":"Conduite à tenir devant une première crise d'épilepsie","authors":"Pascal Sabouraud","doi":"10.1684/j.1950-6945.2001.tb00416.x","DOIUrl":"https://doi.org/10.1684/j.1950-6945.2001.tb00416.x","url":null,"abstract":"RÉSUMÉ La prise en charge d'une première crise d'épilepsie chez un enfant n'a pas fait l'objet encore d'un consensus sur le plan médical. La fréquence de crises méconnues nécessite un interrogatoire orienté devant toute première crise. Cela permet souvent d'envisager un syndrome épileptique particulier. Celui‐ci sera confirmé par la recherche de l'âge de début et le type de crise, l'état intercritique et l'électroencéphalogramme. L'indication d'une imagerie cérébrale, essentiellement une imagerie par résonnance magnétique en dehors du contexte de l'urgence, n'est pas systématique sauf en cas de première crise partielle. L'existence d'antécédents neurologiques, d'une dysmorphie, d'anomalies cutanées, d'une modification récente du comportement ou de l'efficience scolaire, d'un retard mental, d'une anomalie à l'examen neurologique, d'un foyer à l'électroencéphalogramme, d'un âge inférieur à un an permettra de poser l'indication pour une IRM devant une première crise généralisée tonico‐clonique. Enfin, un traitement antiépileptique ne sera pas démarré devant une vraie première crise sauf dans certains syndromes épileptiques caractérisés par une rechute systématique des crises.","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140313028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Natalia Martínez Córdoba, Isabella Lince-Rivera, Jorge Luis Ramón Gómez, Guido Rubboli, Sebastián Ortiz De la Rosa
{"title":"ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients","authors":"Natalia Martínez Córdoba, Isabella Lince-Rivera, Jorge Luis Ramón Gómez, Guido Rubboli, Sebastián Ortiz De la Rosa","doi":"10.1002/epd2.20220","DOIUrl":"10.1002/epd2.20220","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Variants in the <i>ATP1A2</i> gene exhibit a wide clinical spectrum, ranging from familial hemiplegic migraine to childhood epilepsies and early infantile developmental epileptic encephalopathy (EIDEE) with movement disorders. This study aims to describe the epileptology of three unpublished cases and summarize epilepsy features of the other 17 published cases with <i>ATP1A2</i> variants and EIDEE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Medical records of three novel patients with pathogenic <i>ATP1A2</i> variants were retrospectively reviewed. Additionally, the PUBMED, EMBASE, and Cochrane databases were searched until December 2023 for articles on EIDEE with ATP1A2 variants, without language or publication year restrictions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Three female patients, aged 6 months–10 years, were investigated. Epilepsy onset occurred between 5 days and 2 years, accompanied by severe developmental delay, intellectual disability, drug-resistant epilepsy, severe movement disorder, and recurrent status epilepticus. All individuals had pathogenic variants of the <i>ATP1A2</i> gene (<i>ATP1A2</i> c.720_721del (p.Ile240MetfsTer9), <i>ATP1A2c.3022C > T (p.Arg1008Trp)</i>, <i>ATP1A2 c.1096G > T (p.Gly366Cys)</i>, according to ACMG criteria. Memantine was p) rescribed to three patients, one with a reduction in ictal frequency, one with improvement in gait pattern, coordination, and attention span, and another one in alertness without significant side effects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>This study reinforces the association between <i>ATP1A2</i> variants and a severe phenotype. All patients had de novo variants, focal motor seizures with impaired awareness as the primary type of seizure; of the 11 EEGs recorded, 10 presented a slow background rhythm, 7 multifocal interictal epileptiform discharges (IED), predominantly temporal IEDs, followed by frontal IED, as well as ten ictal recordings, which showed ictal onset from the same regions mentioned above. Treatment with antiseizure medication was generally ineffective, but memantine showed moderate improvement. Prospective studies are needed to enlarge the phenotype and assess the efficacy of NMDA receptor antagonist therapies in reducing seizure frequency and improving quality of life.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20220","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140177559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epileptic DisordersPub Date : 2024-03-18DOI: 10.1684/j.1950-6945.2010.tb00534.x
{"title":"KEY WORDS INDEX","authors":"","doi":"10.1684/j.1950-6945.2010.tb00534.x","DOIUrl":"https://doi.org/10.1684/j.1950-6945.2010.tb00534.x","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140170162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. J. J. van Asch, W. P. J. Spetgens, M. D. Bourez-Swart, A. M. Meppelink, C. L. P. Deckers, D. van Blooijs, D. G. A. Kasteleijn-Nolst Trenité
{"title":"Photosensitivity and self-induction in patients aged 50 and older","authors":"C. J. J. van Asch, W. P. J. Spetgens, M. D. Bourez-Swart, A. M. Meppelink, C. L. P. Deckers, D. van Blooijs, D. G. A. Kasteleijn-Nolst Trenité","doi":"10.1002/epd2.20209","DOIUrl":"10.1002/epd2.20209","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Photosensitivity is known to occur predominantly in children and adolescents and with a clear female predominance. Little is known on the prevalence of photosensitivity in older patients (50+) and its phenotypical appearance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective observational study was performed investigating the prevalence of a photoparoxysmal EEG response (PPR) on at least one EEG during the period 2015–2021. Data were gathered from patients aged 50 years and older by retrieving clinical and EEG characteristics from existing medical records. Data on photosensitivity-related symptoms in daily life were gathered with telephone interviewing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In 248 patients a PPR had been elicited, of whom 16 patients (6.5%) were 50 years or older. In older patients, photosensitivity was a persistent feature of childhood-onset epilepsy (<i>n</i> = 8), of adult-onset epilepsy (<i>n</i> = 7), or an incidental finding (<i>n</i> = 1). In the 50+ group, 56% of photosensitive patients was female, whereas 72% in the total PPR-group. In six of 16 older patients, eye closure sensitivity was observed; two of these patients reported self-induction. Symptoms of photosensitivity in daily life were present in eight out of nine patients who consented in a telephone interview. For seven of these patients, wearing sunglasses was helpful.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Female preponderance for photosensitivity was not found in epilepsy patients of 50 years and older. In 44% of the older photosensitive patients in this series, the PPR was a feature of adult-onset epilepsy. Symptoms of photosensitivity in daily life in older patients with epilepsy seem comparable to those in younger patients, and thus worthwhile to diagnose and treat them equally.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Introduction and modification of the ketogenic diet in an adult patient with glucose transporter 1 deficiency syndrome","authors":"Shin Nabatame, Kanako Kishimoto, Toshiyuki Mano","doi":"10.1002/epd2.20218","DOIUrl":"10.1002/epd2.20218","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140141008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
