Epilepsy Syndrome(간질 증후군)란 무엇입니까?
Epilepsy Syndrome 간질 증후군 - However, self-limited childhood epilepsies, being a common group of epilepsy syndromes, would be expected to occur in patients with cerebral palsy merely on chance association and be unrelated to the structural brain imaging abnormality causing the motor impairment. [1] Epilepsy syndromes included Lennox-Gastaut syndrome, myoclonic-atonic epilepsy, and infantile spasms syndrome. [2] Areas that require further investigation include the mechanisms underlying the antiseizure activity of CBD in different syndromes, its pharmacokinetic profile in infants and children, potential relationships between plasma drug concentration and clinical response, interactions with other co-administered medications, potential efficacy in other epilepsy syndromes, and magnitude of antiseizure effects independent from interactions with clobazam. [3] We recommend that preoperative counseling and postoperative monitoring remain high priorities of an epilepsy surgery program regardless of epilepsy syndrome or lateralization. [4] An appropriate ASM is selected on the basis of seizure type, epilepsy syndrome, or drug characteristics. [5] However, the detailed phenotype-genotype correlations are unclear, along with the efficacy of various antiepileptic drugs in the treatment of this epilepsy syndrome. [6] Several seizure types and epilepsy syndromes are peculiar to children. [7] Patients were categorized according to seizure etiology (epileptic, psychogenic or other nonepileptic seizures), epilepsy syndrome (focal or generalized; temporal lobe (TLE) or extra-temporal lobe epilepsy (ETLE)), seizure frequency, and anti-seizure medications (ASMs). [8] Electroencephalograms appear to have the greatest yield in new onset seizure patients and can help make a diagnosis of an epilepsy syndrome in children. [9] Eleven of 20 studies reported significant changes in Glx (glutamate + glutamine) or Glx ratios, with most reporting increased levels, except for a few epilepsy syndromes where reduced levels were reported. [10] Variants in SCN1A result in a broad phenotypic spectrum of epilepsy syndromes, from mild genetic epilepsy with febrile seizures plus to severe Dravet syndrome (DS). [11] Video-EEG is employed commonly for the diagnosis and classification of epilepsy/epilepsy syndromes, to distinguish between seizures and seizures mimickers, for pre-surgical evaluation and in the management of critically ill children. [12] Diagnoses: The patient was diagnosed with overlap AESD and hemiconvulsion-hemiplegia-epilepsy syndrome (HHE syndrome), based on the clinical course and imaging findings. [13] These alterations, caused by the underlying etiologies of epilepsy syndromes, are observed in both animal models and patients in the form of abnormal oscillation patterns in unit firing, local field potentials, and electroencephalogram (EEG). [14] Epilepsy can now be diagnosed even in the presence of one unprovoked seizure or if the diagnosis of an epilepsy syndrome can be made. [15] OBJECTIVE Rolandic epilepsy (RE) is one of the most common forms of epilepsy syndromes in children. [16] The findings provide strong evidence for the interpretation of visual-related symptoms and photosensitivity in familial cortical myoclonic tremor with epilepsy and may also relate to other epilepsy syndromes with photosensitivity. [17] We here assessed the temporal association of food intake and seizure occurrence, and characteristics of seizures and epilepsy syndromes involved. [18] METHODS Outpatient records and questionnaires applied in a tertiary epilepsy centre in Vienna were used in this bottom-up cost-of-illness study to evaluate disease duration, age at onset, epilepsy syndrome, seizure frequency, sex, healthcare utilisation, diagnostic evaluations, antiseizure medication, and occupation. [19] CONCLUSIONS It is important to categorize patients with SES into epilepsy syndromes, including SEBECTs, ABFPEC, NIFE, and LKS; the clinical spectrum may be a significant determinant to influence the outcomes of SES, including neuropsychological deficits and therapeutic outcomes. [20] Epilepsy syndromes are divided into focal and generalized types, which is dependent on whether seizures emerge from a localized brain area or display a widespread involvement of both hemispheres from the outset. [21] Children with a clinical diagnosis of epilepsy underwent EEG and were evaluated for type of seizure, epilepsy syndrome, etiology, co-morbidities and treatment gap. [22] 84%) infants had been diagnosed with epilepsy syndrome. [23] This is effective in treating many seizure types, like a generalized tonic-clonic seizure, myoclonic seizure, absence seizure, in other epilepsy syndromes like an infantile spasm, Landau-Kleffner syndrome (LKS), etc. [24] The information contained within subjective seizure descriptions can be framed within standardized vocabulary and a classification of ictal signs, seizure types, and the integrated framework of epilepsy syndromes. [25] To study the epilepsy syndromes among the severe epilepsies of infancy and assess their incidence, etiologies, and outcomes. [26] Age at epilepsy onset, epilepsy syndrome, EEG features and ASM dose were not significant predictors of the 6-month treatment outcomes in either group. [27] Clobazam (CLB) is an effective anticonvulsant used as an adjunctive treatment for several seizures and epilepsy syndromes. [28] 1 deficiency and mutations reduce interneuron excitability, a major pathological mechanism for epilepsy syndromes. [29] The most common etiologies for epilepsy were hypoxic ischaemic encephalopathy, idiopathic, epilepsy syndromes, metabolic disorders and CNS infections. [30] Epilepsy syndromes were diagnosed in 59 patients. [31] Genetic heterogeneity is seen in many epilepsy syndromes such as West syndrome and epilepsy of infancy with migrating focal seizures (EIMFS), indicating that two or more genetic loci produce the same or similar phenotypes. [32] The risk of seizure recurrence after antiepileptic drugs are discontinued depends on the epilepsy syndrome and a number of other risk factors. [33] Objective: In management of epilepsy, identification of an epileptic seizure, classification, epilepsy syndromes, and management decisions relies heavily on seizure semiology. [34] In 2017, the International League Against Epilepsy published a new classification for seizure types and epilepsy syndrome. [35] 1, have been identified in patients with epilepsy syndromes. [36] The proposed framework may be extendable to a wider range of epilepsy syndromes in which monitoring the burden of epileptic activity can aid clinical decision-making and faster assessment of treatment response and estimation of future seizure risk. [37] The cognitive and behavioural complications of the epilepsies have traditionally been examined in relation to the core characteristics of the disorder, such as the epilepsy syndrome, its aetiology, the frequency and severity of seizures, and treatments. [38] Genetic alterations of GRIN2A result in phenotypic pleiotropy, predisposing to a broad range of epilepsy syndromes, with an elusive and unpredictable evolution and response to treatment. [39] Infantile spasms are a potentially catastrophic form of epilepsy syndrome that are usually associated with substantial developmental delay and commonly occur in children younger than 1 yr. [40] Associations between PTE and clinical characteristics of epilepsy syndrome are also investigated. [41] SUMMARY Recording of interictal epileptiform discharges to classify the epilepsy syndrome is one of the most common indications for ambulatory EEG. [42] Aetiology was determined in 54% of children, and epilepsy syndrome was classified in 54%. [43] Open-label studies suggested the effectiveness of CBD in the treatment of children and adults presenting with other epilepsy syndromes than those addressed by regulatory trials, including CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes, SYNGAP1 encephalopathy, and epilepsy with myoclonic absences. [44] Neurological conditions such as certain channelopathies and epilepsy syndromes exhibit both conditions within their phenotypic spectrum, suggesting shared genetic and molecular underpinnings. [45] In an effort to encourage best clinical practice and research methodology, I include guidance for the diagnosis of infantile spasms (a seizure type) and West syndrome (an epilepsy syndrome). [46] Data analysis included sociodemographic and disease-related variables such as the type of epilepsy syndrome, age at onset of disease, and duration of the disease. [47] Clinical history, neurological examination, seizure types, epilepsy syndromes, and electroencephalogram findings can be used to guide the diagnosis of epilepsy. [48]그러나 간질 증후군의 일반적인 그룹인 자기 제한적 소아 간질은 뇌성 마비 환자에서 단지 우연한 연관성에 의해 발생할 것으로 예상되며 운동 장애를 유발하는 구조적 뇌 영상 이상과 관련이 없습니다. [1] 간질 증후군에는 레녹스-가스토 증후군, 근간대성-긴장성 간질 및 영아 경련 증후군이 포함됩니다. [2] 추가 조사가 필요한 영역에는 다양한 증후군에서 CBD의 항발작 활성의 기저를 이루는 기전, 영유아에서의 약동학 프로파일, 혈장 약물 농도와 임상 반응 사이의 잠재적 관계, 다른 병용 투여 약물과의 상호 작용, 다른 간질 증후군에서의 잠재적 효능이 포함됩니다. , 그리고 clobazam과의 상호작용과는 독립적인 항발작 효과의 크기. [3] 뇌전증 증후군이나 편측화와 상관없이 수술 전 상담과 수술 후 모니터링을 뇌전증 수술 프로그램의 최우선 순위로 두는 것이 좋습니다. [4] 발작 유형, 간질 증후군 또는 약물 특성에 따라 적절한 ASM이 선택됩니다. [5] 그러나 이 간질 증후군의 치료에 다양한 항간질제의 효능과 함께 상세한 표현형-유전자형 상관관계가 불분명합니다. [6] 여러 발작 유형과 간질 증후군은 어린이에게만 나타납니다. [7] 환자는 발작의 원인(간질성, 심인성 또는 기타 비간질성 발작), 간질 증후군(국소성 또는 전신성; 측두엽(TLE) 또는 측두엽 외간질(ETLE)), 발작 빈도 및 항경련제(ASM)에 따라 분류되었습니다. ). [8] 뇌파도는 새로 발병한 발작 환자에서 가장 높은 수율을 보이는 것으로 보이며 어린이의 간질 증후군 진단에 도움이 될 수 있습니다. [9] 20개 연구 중 11개에서는 Glx(글루타메이트 + 글루타민) 또는 Glx 비율에 상당한 변화가 있다고 보고했으며, 감소된 수준이 보고된 몇 가지 간질 증후군을 제외하고 대부분은 증가된 수준을 보고했습니다. [10] SCN1A의 변이는 열성 경련을 동반한 경증 유전성 간질에서 중증 드라베 증후군(DS)에 이르기까지 광범위한 표현형 스펙트럼의 간질 증후군을 초래합니다. [11] Video-EEG는 간질/간질 증후군의 진단 및 분류, 발작과 발작 모방자를 구별하기 위해, 수술 전 평가 및 중환자 관리에 일반적으로 사용됩니다. [12] 진단: 환자는 임상 경과 및 영상 소견에 기초하여 중복 AESD 및 반경련-편마비-간질 증후군(HHE 증후군)으로 진단되었습니다. [13] 간질 증후군의 근본적인 병인으로 인한 이러한 변화는 단위 발사, 국소 장 전위 및 뇌파(EEG)에서 비정상적인 진동 패턴의 형태로 동물 모델과 환자 모두에서 관찰됩니다. [14] 간질은 이제 하나의 원인 없는 발작이 있거나 간질 증후군의 진단이 내려질 수 있는 경우에도 진단될 수 있습니다. [15] 목적 롤란딕 간질(RE)은 소아에서 가장 흔한 형태의 간질 증후군 중 하나입니다. [16] 이 발견은 간질을 동반한 가족성 피질 근간대성 떨림에서 시각 관련 증상과 감광성의 해석에 대한 강력한 증거를 제공하며 또한 감광성이 있는 다른 간질 증후군과 관련될 수 있습니다. [17] 우리는 여기에서 음식 섭취와 발작 발생의 시간적 연관성과 관련된 발작 및 간질 증후군의 특성을 평가했습니다. [18] 행동 양식 질병 기간, 발병 연령, 간질 증후군, 발작 빈도, 성별, 의료 이용, 진단 평가, 항발작 약물을 평가하기 위해 비엔나의 3차 간질 센터에 적용된 외래 환자 기록 및 설문지가 이 상향식 질병 비용 연구에서 사용되었습니다. , 그리고 직업. [19] 결론 SES 환자를 SEBECT, ABFPEC, NIFE 및 LKS를 포함한 간질 증후군으로 분류하는 것이 중요합니다. 임상 스펙트럼은 신경 심리학적 결함 및 치료 결과를 포함하여 SES의 결과에 영향을 미치는 중요한 결정 요인이 될 수 있습니다. [20] 간질 증후군은 국소적 유형과 전신적 유형으로 나뉘며, 이는 발작이 뇌의 국소 영역에서 발생하는지 또는 처음부터 양쪽 반구의 광범위한 침범을 나타내는지에 따라 다릅니다. [21] 간질의 임상 진단을 받은 소아는 EEG를 받았고 발작 유형, 간질 증후군, 병인, 동반 질환 및 치료 격차에 대해 평가되었습니다. [22] 84%) 영아는 간질 증후군 진단을 받았습니다. [23] 이것은 영아 경련, Landau-Kleffner 증후군(LKS) 등과 같은 다른 간질 증후군에서 전신 강직 간대성 발작, 근간대성 발작, 결신 발작과 같은 많은 발작 유형을 치료하는 데 효과적입니다. [24] 주관적인 발작 설명에 포함된 정보는 표준화된 어휘와 발작 징후의 분류, 발작 유형 및 간질 증후군의 통합 프레임워크 내에서 구성될 수 있습니다. [25] 영아의 중증 뇌전증 중 뇌전증 증후군을 연구하고 발병률, 병인 및 결과를 평가합니다. [26] 간질 발병 연령, 간질 증후군, EEG 특징 및 ASM 용량은 두 그룹 모두에서 6개월 치료 결과의 유의미한 예측인자가 아니었습니다. [27] Clobazam(CLB)은 여러 발작 및 간질 증후군의 보조 치료제로 사용되는 효과적인 항경련제입니다. [28] 1 결핍과 돌연변이는 간질 증후군의 주요 병리학적 기전인 신경간 흥분성을 감소시킵니다. [29] 간질의 가장 흔한 병인은 저산소성 허혈성 뇌병증, 특발성, 간질 증후군, 대사 장애 및 CNS 감염이었습니다. [30] 간질 증후군은 59명의 환자에서 진단되었습니다. [31] 유전적 이질성은 웨스트 증후군 및 이동성 국소 발작(EIMFS)을 동반한 유아기 간질과 같은 많은 간질 증후군에서 볼 수 있으며, 이는 둘 이상의 유전적 유전자좌가 동일하거나 유사한 표현형을 생성함을 나타냅니다. [32] 항간질제 중단 후 발작 재발의 위험은 간질 증후군 및 기타 여러 위험 요인에 따라 다릅니다. [33] 목적: 간질 관리에서 간질 발작의 식별, 분류, 간질 증후군 및 관리 결정은 발작 기호학에 크게 의존합니다. [34] 2017년에 국제간질반대연맹(International League Against Epilepsy)은 발작 유형과 간질 증후군에 대한 새로운 분류를 발표했습니다. [35] 1, 간질 증후군 환자에서 확인되었습니다. [36] 제안된 프레임워크는 간질 활동의 부담을 모니터링하는 것이 임상적 의사 결정을 돕고 치료 반응에 대한 더 빠른 평가와 미래의 발작 위험 평가를 도울 수 있는 더 넓은 범위의 간질 증후군으로 확장될 수 있습니다. [37] 간질의 인지 및 행동 합병증은 전통적으로 간질 증후군, 그 병인, 발작의 빈도 및 중증도, 치료와 같은 장애의 핵심 특성과 관련하여 조사되었습니다. [38] GRIN2A의 유전적 변형은 표현형 다면발현을 초래하여 광범위한 간질 증후군에 걸리기 쉽고 예측할 수 없는 진화와 치료 반응을 보입니다. [39] 영아 경련은 잠재적으로 치명적인 형태의 간질 증후군으로, 일반적으로 상당한 발달 지연과 관련이 있으며 일반적으로 1세 미만의 어린이에게 발생합니다. [40] PTE와 간질 증후군의 임상적 특징 사이의 연관성도 조사되었습니다. [41] 요약 간질 증후군을 분류하기 위한 간질 간질 분비물의 기록은 보행성 EEG의 가장 일반적인 징후 중 하나입니다. [42] 병인은 소아의 54%에서 결정되었고 간질 증후군은 54%에서 분류되었습니다. [43] 공개 라벨 연구는 CDKL5 결핍 장애 및 Aicardi, Dup15q 및 Doose 증후군, SYNGAP1 뇌병증, 근간대성 결핍 간질을 포함하여 규제 시험에서 다루어진 것보다 다른 간질 증후군을 나타내는 어린이 및 성인의 치료에 CBD의 효과를 시사했습니다. [44] 특정 채널병증 및 간질 증후군과 같은 신경학적 상태는 표현형 스펙트럼 내에서 두 가지 상태를 모두 나타내어 유전적 및 분자적 토대가 공유됨을 시사합니다. [45] 최상의 임상 실습과 연구 방법론을 장려하기 위해 영아 경련(발작 유형) 및 웨스트 증후군(간질 증후군) 진단에 대한 지침을 포함합니다. [46] 데이터 분석에는 간질 증후군의 유형, 발병 연령 및 질병 기간과 같은 사회인구학적 및 질병 관련 변수가 포함되었습니다. [47] 임상 병력, 신경학적 검사, 발작 유형, 간질 증후군 및 뇌파 검사 소견을 간질 진단에 사용할 수 있습니다. [48]
febrile infection related 발열 감염 관련
This review article covers the vaccination related issues in autoimmune disorders of central nervous system (CNS) including narcolepsy, anti-NMDAR encephalitis, Rasmussen encephalitis and febrile infection related epilepsy syndrome (FIRES). [1] Febrile infection-related epilepsy syndrome (FIRES) is an acute-onset epilepsy syndrome usually refractory to conventional antiepileptics and immunomodulation. [2] Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic encephalopathy of unknown etiology. [3] New-onset refractory status epilepticus and its subcategory febrile infection-related epilepsy syndrome are rare devastating clinical presentations in those without pre-existing relevant history, often in schoolchildren or young adults, without a clear cause on initial investigations. [4] Febrile Infection-Related Epilepsy Syndrome (FIRES) is a devastating immune-inflammatory-mediated epileptic encephalopathy. [5] METHODS We systematically searched for clinical trials, observational studies, case series, and case reports including patients who presented with NORSE, febrile infection-related epilepsy syndrome, or the infantile hemiconvulsion-hemiplegia and epilepsy syndrome. [6] Febrile Infection-Related Epilepsy Syndrome (FIRES) is a catastrophic, extremely rare epileptic encephalopathy. [7] It has been used successfully in the treatment of febrile infection-related epilepsy syndrome in children and in one adult case. [8] The main indications of TPE were Guillain-Barré syndrome (GBS, n = 8), autoimmune encephalitis (n = 5), febrile infection-related epilepsy syndrome (FIRES, n = 4), and acute disseminated encephalomyelitis (ADEM, n = 3). [9] Interestingly, MRI brain showed bilateral T2/fluid-attenuated inversion recovery claustrum hyperintensities, which are more commonly associated with autoimmune encephalitis and febrile infection-related epilepsy syndrome and not reported previously in NPC. [10] Febrile Infection-Related Epilepsy Syndrome (FIRES) is a unique catastrophic epilepsy syndrome, and the development of drug-resistant epilepsy (DRE) is inevitable. [11] INTRODUCTION Early use of the ketogenic diet (KD) is described as having a particular interest for super-refractory status epilepticus and febrile infection-related epilepsy syndrome. [12] Objective: Febrile Infection-Related Epilepsy Syndrome (FIRES) is an immun-mediated epileptic encephalopathy presents as a febrile infection related super refractory status epilepticus with mortality rate of up to 30% in intensive care unit in spite of pharmacologically induced coma and immunotherapies. [13] This case highlights the importance of maintaining MIS-C in the differential as a trigger of Febrile Infection Related Epilepsy Syndrome (FIRES) with multi-organ involvement presenting 2-4 weeks after infectious symptoms and COVID exposure. [14] Eight children with SRSE, all diagnosed with febrile infection-related epilepsy syndrome, were treated with KDT at Great Ormond Street Hospital for Children. [15] Febrile infection-related epilepsy syndrome (FIRES) is a subcategory of NORSE. [16] Febrile infection-related epilepsy syndrome (FIRES) is a subset or variant of new-onset refractory status epilepticus in children. [17] BACKGROUND The febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy which developed the refractory status epilepticus following or during a nonspecific febrile illness. [18] Objective To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome (FIRES). [19] 6%, and 2 of 3 febrile infection-related epilepsy syndrome cases died. [20] A similar syndrome, known as febrile infection-related epilepsy syndrome (FIRES), was previously described in children [1, 2]. [21]이 리뷰 기사는 기면증, 항-NMDAR 뇌염, 라스무센 뇌염 및 열성 감염 관련 간질 증후군(FIRES)을 포함한 중추신경계(CNS)의 자가면역 장애의 예방접종 관련 문제를 다룹니다. [1] 열성 감염 관련 간질 증후군(FIRES)은 급성 발병 간질 증후군으로 일반적으로 기존의 항간질제 및 면역 조절에 불응합니다. [2] nan [3] nan [4] nan [5] nan [6] nan [7] nan [8] nan [9] nan [10] nan [11] nan [12] nan [13] nan [14] nan [15] nan [16] nan [17] nan [18] nan [19] nan [20] nan [21]
childhood absence epilepsy 소아 결핍 간질
Genetic generalized epilepsies (GGEs) include well-established epilepsy syndromes with generalized onset seizures: childhood absence epilepsy, juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), myoclonic absence epilepsy, epilepsy with eyelid myoclonia (Jeavons syndrome), generalized tonic–clonic seizures, and generalized tonic–clonic seizures alone. [1] Recently, many variants in SLC6A1 have been associated with a spectrum of epilepsy syndromes and neurodevelopmental disorders, including myoclonic atonic epilepsy, childhood absence epilepsy, autism, and intellectual disability, but the patho-mechanisms associated with these phenotypes remain unclear. [2] Epilepsy syndromes included febrile seizures plus, Lennox‐Gastaut syndrome, childhood absence epilepsy, and generalized tonic‐clonic seizures alone. [3]유전성 전신 간질(GGE)에는 전신 발작이 있는 잘 확립된 간질 증후군이 포함됩니다. 소아 결핍 간질, 청소년 근간대성 간질(JME), 소아성 결핍 간질(JAE), 근간대성 결핍 간질, 눈꺼풀 근간대증을 동반한 간질(Jeavons 증후군) -간대성 발작 및 전신 강직성-간대성 발작 단독. [1] 최근에, SLC6A1의 많은 변이체가 근간대성 긴장성 간질, 아동기 결핍 간질, 자폐증 및 지적 장애를 포함하는 간질 증후군 및 신경 발달 장애의 스펙트럼과 관련되어 있지만 이러한 표현형과 관련된 병리 기전은 불분명합니다. [2] nan [3]
Related Epilepsy Syndrome 관련 간질 증후군
This review article covers the vaccination related issues in autoimmune disorders of central nervous system (CNS) including narcolepsy, anti-NMDAR encephalitis, Rasmussen encephalitis and febrile infection related epilepsy syndrome (FIRES). [1] Febrile infection-related epilepsy syndrome (FIRES) is an acute-onset epilepsy syndrome usually refractory to conventional antiepileptics and immunomodulation. [2] A diagnosis of Febrile Infection‐Related Epilepsy Syndrome (FIRES) was made. [3] Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic encephalopathy of unknown etiology. [4] New-onset refractory status epilepticus and its subcategory febrile infection-related epilepsy syndrome are rare devastating clinical presentations in those without pre-existing relevant history, often in schoolchildren or young adults, without a clear cause on initial investigations. [5] Febrile Infection-Related Epilepsy Syndrome (FIRES) is a devastating immune-inflammatory-mediated epileptic encephalopathy. [6] METHODS We systematically searched for clinical trials, observational studies, case series, and case reports including patients who presented with NORSE, febrile infection-related epilepsy syndrome, or the infantile hemiconvulsion-hemiplegia and epilepsy syndrome. [7] Febrile Infection-Related Epilepsy Syndrome (FIRES) is a catastrophic, extremely rare epileptic encephalopathy. [8] Such a molecule provides a precision-medicine approach to target SCN8A-related epilepsy syndromes (SCN8A-RES), where gain-of-function (GoF) mutations lead to excess NaV1. [9] It has been used successfully in the treatment of febrile infection-related epilepsy syndrome in children and in one adult case. [10] Febrile infection‐related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy that presents suddenly in otherwise normal children and young adults causing significant neurological disability, chronic epilepsy, and high rates of mortality. [11] The main indications of TPE were Guillain-Barré syndrome (GBS, n = 8), autoimmune encephalitis (n = 5), febrile infection-related epilepsy syndrome (FIRES, n = 4), and acute disseminated encephalomyelitis (ADEM, n = 3). [12] Febrile‐infection‐related epilepsy syndrome (FIRES) is an exceedingly rare and devastating subtype of new‐onset refractory status epilepticus, which causes refractory epilepsy and permanent neurocognitive impairment. [13] Interestingly, MRI brain showed bilateral T2/fluid-attenuated inversion recovery claustrum hyperintensities, which are more commonly associated with autoimmune encephalitis and febrile infection-related epilepsy syndrome and not reported previously in NPC. [14] Febrile Infection-Related Epilepsy Syndrome (FIRES) is a unique catastrophic epilepsy syndrome, and the development of drug-resistant epilepsy (DRE) is inevitable. [15] Increasing reports suggest a role for immunological mechanisms in febrile infection‐related epilepsy syndrome (FIRES). [16] INTRODUCTION Early use of the ketogenic diet (KD) is described as having a particular interest for super-refractory status epilepticus and febrile infection-related epilepsy syndrome. [17] Objective: Febrile Infection-Related Epilepsy Syndrome (FIRES) is an immun-mediated epileptic encephalopathy presents as a febrile infection related super refractory status epilepticus with mortality rate of up to 30% in intensive care unit in spite of pharmacologically induced coma and immunotherapies. [18] This case highlights the importance of maintaining MIS-C in the differential as a trigger of Febrile Infection Related Epilepsy Syndrome (FIRES) with multi-organ involvement presenting 2-4 weeks after infectious symptoms and COVID exposure. [19] Eight children with SRSE, all diagnosed with febrile infection-related epilepsy syndrome, were treated with KDT at Great Ormond Street Hospital for Children. [20] FIRES (febrile infection‐related epilepsy syndrome) is a protracted neuroinflammatory condition of obscure cause. [21] Febrile infection-related epilepsy syndrome (FIRES) is a subcategory of NORSE. [22] Febrile infection-related epilepsy syndrome (FIRES) is a subset or variant of new-onset refractory status epilepticus in children. [23] BACKGROUND The febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy which developed the refractory status epilepticus following or during a nonspecific febrile illness. [24] Objective To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome (FIRES). [25] 6%, and 2 of 3 febrile infection-related epilepsy syndrome cases died. [26] A similar syndrome, known as febrile infection-related epilepsy syndrome (FIRES), was previously described in children [1, 2]. [27]이 리뷰 기사는 기면증, 항-NMDAR 뇌염, 라스무센 뇌염 및 열성 감염 관련 간질 증후군(FIRES)을 포함한 중추신경계(CNS)의 자가면역 장애의 예방접종 관련 문제를 다룹니다. [1] 열성 감염 관련 간질 증후군(FIRES)은 급성 발병 간질 증후군으로 일반적으로 기존의 항간질제 및 면역 조절에 불응합니다. [2] nan [3] nan [4] nan [5] nan [6] nan [7] nan [8] nan [9] nan [10] nan [11] nan [12] nan [13] nan [14] nan [15] nan [16] nan [17] nan [18] nan [19] nan [20] nan [21] nan [22] nan [23] nan [24] nan [25] nan [26] nan [27]
Onset Epilepsy Syndrome 발병 간질 증후군
Dravet syndrome (DS) is a severe infantile-onset epilepsy syndrome featuring drug resistant epilepsy, global developmental delay and intellectual disability. [1] Among medical subspecialists, the pediatric neurologist is often responsible for making the initial diagnosis when the affected individual presents with infantile spasms or another early-onset epilepsy syndrome. [2] Approximately 50% of patients with tuberous sclerosis complex develop infantile spasms, a sudden onset epilepsy syndrome associated with poor neurological outcomes. [3] Approval of CBD as a treatment for these rare and severe pediatric-onset epilepsy syndromes is an important milestone, but the complete spectrum of use of cannabis-derived products, and the use of CBD for other epilepsy syndromes remains to be determined. [4] There is a substantial body of research on social cognition in adults with epilepsy, and in broad categories such as focal and generalized epilepsies, but much less has been written about social cognition in children with epilepsy (CWE), and in childhood-onset epilepsy syndromes specifically. [5] PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and afebrile seizures with onset primarily before the age of three years, cognitive impairment, autistic traits, and behavioral abnormalities. [6]Dravet 증후군(DS)은 약물 내성 간질, 전반적인 발달 지연 및 지적 장애를 특징으로 하는 심각한 영아 발병 간질 증후군입니다. [1] 의료 하위 전문의 중에서 소아 신경과 전문의는 영향을 받은 개인이 영아 연축 또는 다른 조기 발병 간질 증후군을 나타낼 때 초기 진단을 내리는 책임이 있습니다. [2] 결절성 경화증 복합체를 가진 환자의 약 50%는 불량한 신경학적 결과와 관련된 갑작스러운 발병 간질 증후군인 영아 연축을 발생시킵니다. [3] nan [4] nan [5] nan [6]
Focal Epilepsy Syndrome 국소 간질 증후군
Opposing changes were found in models for cortical dysplasia focal epilepsy syndrome (Cntnap2 knockout), Phelan McDermid syndrome (Shank3 InsG3680), Timothy syndrome (Cacna1c G406R), and ANKS1B syndrome (Anks1b haploinsufficiency), which were similar to each other. [1] PTHSL1 also called cortical dysplasia-focal epilepsy syndrome is an autosomal. [2] Epilepsy with Auditory Features (EAF) is a focal epilepsy syndrome mainly of unknown aetiology. [3] Childhood epilepsy with centrotemporal spikes (CECTS) is the most common focal epilepsy syndrome, yet the cause of this disease remains unknown. [4] There are several directions researchers can follow to improve existing treatment of focal epilepsy: synthesis of new compounds with anticonvulsant activity, repurposing drugs approved for other indications, finding drugs targeted to specific genetic and biochemical defects that underlie focal epilepsy syndromes, development of viral vectors for specific gene therapy, creation of devices and methods for suppression of seizures by electrostimulation and development of methods to increase safety of epilepsy surgery. [5] Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes. [6]대뇌피질 이형성증 국소 간질 증후군(Cntnap2 knockout), Phelan McDermid 증후군(Shank3 InsG3680), 티모시 증후군(Cacna1c G406R) 및 ANKS1B 증후군(Anks1b haploinsufficiency)에 대한 모델에서 반대되는 변화가 발견되었습니다. [1] PTHSL1은 피질 이형성증-초점 간질 증후군이라고도 하며 상염색체입니다. [2] nan [3] nan [4] nan [5] nan [6]