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1.
Neuropediatrics ; 50(5): 308-312, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31226716

RESUMO

Mutations that disrupt the TBC1D24 presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome, nonsyndromic hearing loss, and myoclonus. We present the case of a 22-month-old male with infantile-onset paroxysmal episodes of facial and limb myoclonus. The episodes were linked to biallelic variants in exon 2 of the TBC1D24 gene that lead to amino acid changes (c.304C >T/p.Pro102Ser and c.410T > C/p.Val137Ala), each variant being inherited from a parent. Follow-up imaging in adolescence revealed widened right cerebellar sulci. We discuss the evolving landscape of TBC1D24 associated phenotypes; this case adds to a growing body of evidence linking this gene to movement disorders in children.

3.
Epilepsia ; 60(5): 830-844, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30968951

RESUMO

OBJECTIVE: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE). In this study, we aimed to provide further insight on the spectrum of milder SCN8A-related epilepsies. METHODS: A cohort of 1095 patients were screened using a next generation sequencing panel. Further patients were ascertained from a network of epilepsy genetics clinics. Patients with severe DEE and BFIS were excluded from the study. RESULTS: We found 36 probands who presented with an SCN8A-related epilepsy and normal intellect (33%) or mild (61%) to moderate ID (6%). All patients presented with epilepsy between age 1.5 months and 7 years (mean = 13.6 months), and 58% of these became seizure-free, two-thirds on monotherapy. Neurological disturbances included ataxia (28%) and hypotonia (19%) as the most prominent features. Interictal electroencephalogram was normal in 41%. Several recurrent variants were observed, including Ile763Val, Val891Met, Gly1475Arg, Gly1483Lys, Phe1588Leu, Arg1617Gln, Ala1650Val/Thr, Arg1872Gln, and Asn1877Ser. SIGNIFICANCE: With this study, we explore the electroclinical features of an intermediate SCN8A-related epilepsy with mild cognitive impairment, which is for the majority a treatable epilepsy.

5.
Epileptic Disord ; 20(5): 374-385, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-30378554

RESUMO

Following the results of the multicentre European retrospective "TimeToStop" cohort study, we initiated a randomised trial to determine cognitive benefits of early postoperative antiepileptic drug withdrawal. Unfortunately, the trial failed to recruit and was terminated, as almost all parents preferred early drug withdrawal. The objectives of the current survey were to obtain insight into current practices regarding drug withdrawal after paediatric epilepsy surgery among epileptologists, and better understand the reasons for difficulties in recruitment. A survey was sent to three international epilepsy surgery networks, questioning drug withdrawal policies. Forty-seven (19%) surveys were returned. For polytherapy, withdrawal was started at a median of three and six months by the TimeToStop collaborators and other paediatric epileptologists, respectively. Withdrawal was completed at a median of 12 and 20 months, respectively. For monotherapy, tapering was initiated at five and 11 months in these two groups, and ended at a median of seven and 12 months, respectively. Most TimeToStop collaborators believed that it was not justified to wait 12 months after surgery before reducing AEDs, regardless of the number of AEDs taken. Current AED policies in Europe have changed as a consequence of the retrospective TimeToStop results, and this accounts for why recruitment in a randomised trial was not feasible.

6.
Ann Neurol ; 84(5): 788-795, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30269351

RESUMO

NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy-like phenotype in a subset of patients. Ann Neurol 2018;84:796-803.

7.
Epileptic Disord ; 20(4): 295-300, 2018 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-30063026

RESUMO

Epileptic spasms represent a subcategory of motor seizures that have been extensively documented and recently re-classified by the International League Against Epilepsy as either generalized, focal or of unknown onset. Atypical characteristics continue to be reported in case studies, emphasizing the divergent morphological traits and putting into question the underlying aetiopathophysiology. Here, we report the findings of an infant with a triad of clinical manifestations during a single ictal event, comprising a cluster of epileptic spasms, vertical binocular nystagmus, and a focal tonic seizure. A video recording is presented that enabled clinical data to be correlated with EEG modifications. To date, a focal lesion has not been identified on brain imaging. The co-occurrence of these ictal paroxysms provides insight into the anatomical localization of seizure onset and complex epileptic networks involved, and challenges the pathophysiological hypothesis for epileptic spasms, implicating cortical-subcortical dysfunction and the implication of structures deep within the sulcus. Furthermore, the focal components both clinically and electrographically implicate involvement of the frontal eye field in the generation of vertical ictal nystagmus. [Published with video sequence on www.epilepticdisorders.com].


Assuntos
Epilepsia Motora Parcial/diagnóstico , Nistagmo Patológico/diagnóstico , Espasmos Infantis/diagnóstico , Eletroencefalografia , Humanos , Lactente , Masculino
9.
Eur J Paediatr Neurol ; 22(3): 396-403, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29291919

RESUMO

OBJECTIVE: The role of autoimmunity and neural antibodies is increasingly recognized in different forms of seizures and epilepsy. Their prevalence in new-onset epilepsy has also recently been the focus of several clinical cohorts in the adult and pediatric population, with positive titers in 10-11% of cases. Our aim was to determine the seropositivity at the first seizure onset in a non-selective group of children. METHOD: We conducted a prospective multicenter cohort study recruiting children aged 0-16 years with new-onset seizures presenting at the In- and Outpatient Pediatric Neurology Departments of three Children's Hospitals in Switzerland between September 2013 and April 2016. Neural antibodies were screened within the first 6 months of a first seizure and when positive, repeated at 1 month and 6 months follow-up. RESULTS: A total of 103 children were enrolled with a mean age at presentation of 5 years (range 1 day-15 years 9 months). The majority (n = 75) presented with generalized seizures and 6 had status epilepticus lasting > 30 min. At the time of onset, 55% of patients had fever, 24% required emergency seizure treatment and 27% hospitalization. Epilepsy was diagnosed at follow-up in 18%. No specific antibody was found. Serum antibodies against the VGKC complex, without binding to the specific antigens LGI1 and CASPR2, were found in two patients. Four patients harbored not otherwise characterized antibodies against mouse neuropil. INTERPRETATION: Specific neural antibodies are rarely found in an unselected population of children that present with a first seizure. Applying an extensive neuronal antibody profile in a child with new-onset seizures does not appear to be justified.


Assuntos
Autoanticorpos/imunologia , Doenças Autoimunes/epidemiologia , Neurônios/imunologia , Convulsões/imunologia , Adolescente , Autoantígenos/imunologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Prevalência , Estudos Prospectivos
10.
Genome Med ; 10(1): 3, 2018 01 09.
Artigo em Inglês | MEDLINE | ID: mdl-29310717

RESUMO

BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification. METHODS: We studied the discriminatory power of multiple GPI-linked substrates that were assessed by flow cytometry in blood cells and fibroblasts of 39 and 14 individuals with a GPIBD, respectively. On the phenotypic level, we evaluated the frequency of occurrence of clinical symptoms and analyzed the performance of computer-assisted image analysis of the facial gestalt in 91 individuals. RESULTS: We found that certain malformations such as Morbus Hirschsprung and diaphragmatic defects are more likely to be associated with particular gene defects (PIGV, PGAP3, PIGN). However, especially at the severe end of the clinical spectrum of HPMRS, there is a high phenotypic overlap with MCAHS. Elevation of AP has also been documented in some of the individuals with MCAHS, namely those with PIGA mutations. Although the impairment of GPI-linked substrates is supposed to play the key role in the pathophysiology of GPIBDs, we could not observe gene-specific profiles for flow cytometric markers or a correlation between their cell surface levels and the severity of the phenotype. In contrast, it was facial recognition software that achieved the highest accuracy in predicting the disease-causing gene in a GPIBD. CONCLUSIONS: Due to the overlapping clinical spectrum of both HPMRS and MCAHS in the majority of affected individuals, the elevation of AP and the reduced surface levels of GPI-linked markers in both groups, a common classification as GPIBDs is recommended. The effectiveness of computer-assisted gestalt analysis for the correct gene inference in a GPIBD and probably beyond is remarkable and illustrates how the information contained in human faces is pivotal in the delineation of genetic entities.


Assuntos
Citometria de Fluxo/métodos , Glicosilfosfatidilinositóis/biossíntese , Processamento de Imagem Assistida por Computador , Anormalidades Múltiplas/metabolismo , Automação , Biomarcadores/metabolismo , Humanos , Deficiência Intelectual/metabolismo , Fenótipo , Distúrbios do Metabolismo do Fósforo/metabolismo , Síndrome
11.
Dev Med Child Neurol ; 60(1): 100-105, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29064093

RESUMO

In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters. Cognitive impairment was noted in four out of five patients. Radiological evidence of cortical malformations was present in all cases and, in two patients, validated by histology. Sanger sequencing and Multiplex Ligation-dependent Probe Amplification analysis of PCDH19 revealed pathogenic variants in four patients. In one patient, array comparative genomic hybridization showed a microdeletion encompassing PCDH19. We propose molecular testing and analysis of PCDH19 in patients with pharmacoresistant epilepsy, with onset in early infancy, seizures in clusters, and fever sensitivity. Structural lesions are to be searched in patients with PCDH19 pathogenic variants. Further, PCDH19 analysis should be considered in epilepsy surgery evaluation even in the presence of cerebral structural lesions. WHAT THIS PAPER ADDS: Focal cortical malformations and monogenic epilepsy syndromes may coexist. Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures.


Assuntos
Caderinas/genética , Epilepsia , Malformações do Desenvolvimento Cortical , Adolescente , Criança , Pré-Escolar , Comorbidade , Epilepsia/epidemiologia , Epilepsia/genética , Epilepsia/fisiopatologia , Feminino , Humanos , Imagem por Ressonância Magnética , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/epidemiologia , Malformações do Desenvolvimento Cortical/genética , Malformações do Desenvolvimento Cortical/patologia
12.
Brain ; 140(9): 2337-2354, 2017 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-29050392

RESUMO

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations. We identified five novel and confirmed six known mutations, three of which recurred in three, five and seven patients, respectively. Ten mutations were missense and one was a truncation mutation; de novo occurrence could be shown in 20 patients. Functional studies using a Xenopus oocyte two-microelectrode voltage clamp system revealed mutations with only loss-of-function effects (mostly dominant-negative current amplitude reduction) in eight patients or only gain-of-function effects (hyperpolarizing shift of voltage-dependent activation, increased amplitude) in nine patients. In six patients, the gain-of-function was diminished by an additional loss-of-function (gain-and loss-of-function) due to a hyperpolarizing shift of voltage-dependent activation combined with either decreased amplitudes or an additional hyperpolarizing shift of the inactivation curve. These electrophysiological findings correlated with distinct phenotypic features. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalized and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations. Our study thus indicates well represented genotype-phenotype associations between three subgroups of patients with KCNA2 encephalopathy according to the electrophysiological features of the mutations.


Assuntos
Encefalopatias/diagnóstico , Encefalopatias/genética , Epilepsia/diagnóstico , Canal de Potássio Kv1.2/genética , Animais , Encefalopatias/complicações , Epilepsia/complicações , Epilepsia/genética , Estudos de Associação Genética , Mutação , Oócitos/fisiologia , Fenótipo , Xenopus
13.
Pediatrics ; 140(3)2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28794080

RESUMO

The relation between the immune system and epilepsy has been studied for a long time. Immune activation may precede or follow the appearance of seizures. Depending on the situation, the innate and acquired immunity may be involved to various degrees. The intense, ongoing research has opened encouraging management and therapeutic perspectives for a significant number of patients suffering from seizures. These include the use of various drugs and less conventional approaches with anti-inflammatory or immunomodulatory properties. Data for children remain scarce, however, and the practical implications of recent discoveries in the field remain to be identified formally. The aim of this review is to present current knowledge of the role of immunity in relation to seizures, with a particular emphasis on clinical data available in childhood. More specifically, various autoantibodies involved in autoimmune encephalitis and epilepsy and general pathophysiological hypotheses on the role of immunity in seizure genesis are discussed, specific epilepsy syndromes in which autoimmune components have been studied are summarized, workup recommendations and therapeutic options are suggested, and finally, open questions and future needs are presented.


Assuntos
Imunidade Adaptativa , Epilepsia/imunologia , Imunidade Inata , Convulsões/imunologia , Anti-Inflamatórios/uso terapêutico , Autoanticorpos/fisiologia , Criança , Epilepsia/tratamento farmacológico , Humanos , Fatores Imunológicos/uso terapêutico , Prognóstico , Convulsões/tratamento farmacológico
14.
Eur Neurol ; 78(1-2): 105-110, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28738370

RESUMO

OBJECTIVE: Evaluation for surgical treatment is offered to patients who do not respond to antiepileptic drugs. Pseudo-pharmacoresistance (PPR) has been described in the context of impaired compliance, incorrect diagnosis of epilepsy or pharmacological interference resulting in too low blood levels. We were interested to determine the frequency and causes of PPR in patients admitted for presurgical evaluation. METHODS: We reviewed 553 drug levels in 199 patients and analyzed the relative frequency of drugs below reference range (10 and 20% below the range). RESULTS: Patients who had at least one serum level below the 10% cut-off amounted to 33% and 9% of patients had at least one serum level below the 20% cut-off. Only in 2 patients (1%), this was due to poor compliance. Low levels were equally frequent in mono- or polytherapy. Drugs that were most frequently found out of range were phenytoin, valproate, and topiramate. In monotherapy, lamotrigine was often prescribed in too low dosages. CONCLUSION: Low drug levels are frequently observed in surgical candidates due to pharmacological interference or insufficient dosing. Poor compliance or incorrect diagnosis does not appear to be a significant concern in this patient group. Our data strengthen the need for regular drug monitoring even in advanced chronic epilepsy to avoid unnecessary health costs by too low and ineffective dosages.


Assuntos
Anticonvulsivantes/administração & dosagem , Anticonvulsivantes/sangue , Monitoramento de Medicamentos , Epilepsia/tratamento farmacológico , Adolescente , Adulto , Criança , Pré-Escolar , Erros de Diagnóstico/estatística & dados numéricos , Resistência a Medicamentos , Feminino , Humanos , Lactente , Masculino , Adesão à Medicação/estatística & dados numéricos , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
15.
Am J Med Genet A ; 173(9): 2456-2460, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28631894

RESUMO

Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies.


Assuntos
Epilepsias Mioclônicas Progressivas/genética , Neuropeptídeos/genética , Serpinas/genética , Adolescente , Idade de Início , Criança , Humanos , Masculino , Mutação , Epilepsias Mioclônicas Progressivas/fisiopatologia
16.
J Med Genet ; 54(7): 460-470, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28377535

RESUMO

BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care. RESULTS: Overall, de novo variants in 86 patients were classified as pathogenic/likely pathogenic. Patients presented with neurodevelopmental disorders and a spectrum of hypotonia, movement disorder, cortical visual impairment, cerebral volume loss and epilepsy. Six patients presented with a consistent malformation of cortical development (MCD) intermediate between tubulinopathies and polymicrogyria. Missense variants cluster in transmembrane segments and ligand-binding sites. Functional consequences of variants were diverse, revealing various potential gain-of-function and loss-of-function mechanisms and a retained sensitivity to the use-dependent blocker memantine. However, an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated. CONCLUSIONS: In addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies.


Assuntos
Encefalopatias/genética , Mutação/genética , Receptores de N-Metil-D-Aspartato/genética , Encefalopatias/tratamento farmacológico , Heterozigoto , Humanos , Imagem por Ressonância Magnética , Memantina/uso terapêutico , Terapia de Alvo Molecular , Neuroimagem , Fenótipo , Receptores de N-Metil-D-Aspartato/antagonistas & inibidores , Receptores de N-Metil-D-Aspartato/metabolismo
17.
Hum Genet ; 136(4): 463-479, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28283832

RESUMO

Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, and review additional data from 37 previously published patients with 1q43q44 microdeletions. We compare clinical data of patients with 1q43q44 microdeletions with those of patients with point mutations in HNRNPU and ZBTB18 to assess the contribution of each gene as well as the possibility of epistasis between genes. Our study demonstrates that AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance. ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance. Co-deletion of contiguous genes has additive effects. Our results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of AKT3, ZBTB18 and HNRNPU in humans.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 1 , Ribonucleoproteínas Nucleares Heterogêneas/genética , Mutação , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Proteínas Repressoras/genética , Humanos
19.
Mol Syndromol ; 7(4): 197-209, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27781030

RESUMO

Despite intensive research activity leading to many important discoveries, the pathophysiological mechanisms underlying seizures and epilepsy remain poorly understood. An important number of specific gene defects have been related to various forms of epilepsies, and autoimmunity and epilepsy have been associated for a long time. Certain central nervous system proteins have been involved in epilepsy or acute neurological diseases with seizures either due to underlying gene defects or immune dysfunction. Here, we focus on 2 of them that have been the object of particular attention and in-depth research over the past years: the N-methyl-D-aspartate receptor and the leucin-rich glioma-inactivated protein 1 (LGI1). We also describe illustrative examples of situations in which genetics and immunology meet in the complex pathways that underlie seizures and epilepsy.

20.
Epileptic Disord ; 18(3): 289-96, 2016 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-27506632

RESUMO

AIM: To describe the occurrence of epileptic spasms in epilepsy with myoclonic-atonic seizures (EMAS) or Doose syndrome. METHODS: Case descriptions of patients with EMAS and epileptic spasms. Diagnosis of EMAS was performed according to the following criteria: (1) onset of myoclonic, myoclonic-atonic, or atonic seizures at between 7 months and 6 years of age; (2) normal development before onset of epilepsy; (3) absence of structural cerebral abnormalities on MRI; (4) presence of generalized spike-waves or polyspike-waves on EEG; and (5) exclusion of other myoclonic epilepsies. RESULTS: Four patients with EMAS were included. For each of them, epileptic spasms were documented by video interpretation, or video-EEG when available. CONCLUSIONS: Our description of epileptic spasms in four patients with EMAS enlarges the spectrum of seizures that may be observed in this syndrome, as well as the number of epilepsy syndromes which may involve epileptic spasms. This evidence suggests that the presence of epileptic spasms is consistent with a diagnosis of EMAS; epileptic spasms should therefore not be considered a seizure type that excludes diagnosis of this epilepsy syndrome. The prognostic significance of epileptic spasms associated with EMAS remains unknown.


Assuntos
Debilidade Muscular/fisiopatologia , Mioclonia/fisiopatologia , Convulsões/fisiopatologia , Adolescente , Criança , Eletroencefalografia , Humanos , Masculino , Síndrome
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