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1.
Epileptic Disord ; 21(2): 185-191, 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-30977726

RESUMO

Epilepsy with auditory features (EAF) is a focal epilepsy syndrome characterized by prominent auditory ictal manifestations. Two main genes, LGI1 and RELN, have been implicated in EAF, but the genetic aetiology remains unknown in half of families and most sporadic cases. We previously described a pathogenic SCN1A missense variant (p.Thr956Met) segregating in a large family in which the proband and her affected daughter had EAF, thus satisfying the minimum requirement for diagnosis of autosomal dominant EAF (ADEAF). However, the remaining eight affected family members had clinical manifestations typically found in families with genetic epilepsy with febrile seizures plus (GEFS+). We aimed to investigate the role/impact of SCN1A mutations in EAF. We detailed the phenotype of this family and report on SCN1A screening in a cohort of 29 familial and 52 sporadic LGI1 variant-negative EAF patients. We identified two possibly pathogenic missense variants (p.Tyr790Phe and p.Thr140Ile) in sporadic patients (3.8%) showing typical EAF and no antecedent febrile seizures. Both p.Thr956Met and p.Tyr790Phe were previously described in unrelated patients with epilepsies within the GEFS+ spectrum. SCN1A mutations may be involved in EAF within the GEFS+ spectrum, however, the role of SCN1A in EAF without features that lead to a suspicion of underlying GEFS+ remains unclear and should be elucidated in future studies.


Assuntos
Transtornos da Percepção Auditiva , Epilepsias Parciais , Epilepsia Generalizada , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Convulsões Febris , Adulto , Idoso , Transtornos da Percepção Auditiva/etiologia , Transtornos da Percepção Auditiva/genética , Transtornos da Percepção Auditiva/fisiopatologia , Epilepsias Parciais/complicações , Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Convulsões Febris/complicações , Convulsões Febris/genética , Convulsões Febris/fisiopatologia
2.
Ideggyogy Sz ; 72(3-4): 99-109, 2019 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-30957464

RESUMO

Background and purpose: To investigate the neurophysiological basis of secondary generalization of partial epileptic seizures. Methods: Inter-ictal, resting-state EEG functional connectivity (EEGfC) was evaluated and compared: patients with exclusively simple partial seizures (sp group) were compared to patients with simple partial and secondary generalized seizures (spsg group); patients with exclusively complex partial seizures (cp group) were compared to patients with cp and secondary generalized seizures (cpsg group); the collapsed sp+cp group (spcp) was compared to those who had exclusively secondary generalized seizures (sg group). EEGfC was computed from 21-channel waking EEG. 3 minutes of waking EEG background activity was analyzed by the LORETA Source Correlation (LSC) software. Current source density time series were computed for 23 pre-defined cortical regions (ROI) in each hemisphere, for the 1-25 Hz very narrow bands (1 Hz bandwidth). Thereafter Pearson correlation coefficients were calculated between all pairs of ROI time series in the same hemisphere. Z-scored correlation coefficients were compared at the group level (t-tests and correction for multiple comparisons by local false discovery rate, FDR). Results: Statistically significant (corrected p<0.05) EEGfC differences emerged at specific frequencies (spsg > sg; cpsg > cp), and at many frequencies (sg > spcp). The findings indicated increased coupling between motor cortices and several non-motor areas in patients with partial and sg seizures as compared to patients with partial seizures and no sg seizures. Further findings suggested increased coupling between medial parietal-occipital areas (structural core of the cortex) and lateral hemispheric areas. Conclusion: Increased inter-ictal EEGfC is associated with habitual occurrence of secondary generalized seizures.


Assuntos
Eletroencefalografia , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/fisiopatologia , Humanos , Convulsões
3.
Epileptic Disord ; 21(1): 92-96, 2019 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-30816845

RESUMO

Generalized tonic status epilepticus (TSE) is a rare epileptic condition. It occurs usually in the context of symptomatic generalized epilepsy, in particular, in subjects with a diagnosis of Lennox-Gastaut syndrome, atypical forms of idiopathic (genetic) generalized epilepsy, or as a paradoxical effect during treatment with diverse antiepileptic drugs. Herein, we describe the case of an elderly woman on chronic treatment with psychotropic drugs who developed an episode of generalized TSE. Motor manifestations were subtle and difficult to recognize as seizures, and a detailed video-EEG importantly contributed to accurate and prompt diagnosis. TSE was initially refractory to conventional anti-seizure drug therapy including levetiracetam and valproate but was finally controlled with lacosamide. Our case indicates a potential therapeutic effect of lacosamide on TSE in the elderly after treatment failure with first-line anti-seizure drugs. [Published with video sequence on www.epilepticdisorders.com].


Assuntos
Anticonvulsivantes/farmacologia , Epilepsia Generalizada/fisiopatologia , Lacosamida/farmacologia , Estado Epiléptico/fisiopatologia , Idoso de 80 Anos ou mais , Eletroencefalografia , Epilepsia Generalizada/tratamento farmacológico , Feminino , Humanos , Estado Epiléptico/tratamento farmacológico
4.
BMC Med Genet ; 20(1): 16, 2019 01 14.
Artigo em Inglês | MEDLINE | ID: mdl-30642272

RESUMO

BACKGROUND: KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over 100 cases of KBG syndrome reported. CASE PRESENTATION: Here, we describe two sisters of a non-consanguineous family, both presenting generalized epilepsy with febrile seizures (GEFS+), and one with a more complex phenotype associated with mild intellectual disability, skeletal and dental anomalies. Whole exome sequencing (WES) analysis in all the family members revealed a heterozygous SCN9A mutation, p.(Lys655Arg), shared among the father and the two probands, and a novel de novo loss of function mutation in the ANKRD11 gene, p.(Tyr1715*), in the proband with the more complex phenotype. The reassessment of the phenotypic features confirmed that the patient fulfilled the proposed diagnostic criteria for KBG syndrome, although complicated by early-onset isolated febrile seizures. EEG abnormalities with or without seizures have been reported previously in some KBG cases. The shared variant, occurring in SCN9A, has been previously found in several individuals with GEFS+ and Dravet syndrome. CONCLUSIONS: This report describe a novel de novo variant in ANKRD11 causing a mild phenotype of KGB syndrome and further supports the association of monogenic pattern of SCN9A mutations with GEFS+. Our data expand the allelic spectrum of ANKRD11 mutations, providing the first Brazilian case of KBG syndrome. Furthermore, this study offers an example of how WES has been instrumental allowing us to better dissect the clinical phenotype under study, which is a multilocus variation aggregating in one proband, rather than a phenotypic expansion associated with a single genomic locus, underscoring the role of multiple rare variants at different loci in the etiology of clinical phenotypes making problematic the diagnostic path. The successful identification of the causal variant in a gene may not be sufficient, making it necessary to identify other variants that fully explain the clinical picture. The prevalence of blended phenotypes from multiple monogenic disorders is currently unknown and will require a systematic re-analysis of large WES datasets for proper diagnosis in daily practice.


Assuntos
Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/genética , Epilepsia Generalizada/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Deficiência Intelectual/genética , Mutação , Fenótipo , Proteínas Repressoras/genética , Convulsões Febris/genética , Anormalidades Dentárias/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/fisiopatologia , Adolescente , Alelos , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/fisiopatologia , Brasil , Eletroencefalografia , Epilepsia Generalizada/fisiopatologia , Facies , Feminino , Loci Gênicos , Heterozigoto , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/etiologia , Deficiência Intelectual/fisiopatologia , Canal de Sódio Disparado por Voltagem NAV1.7/genética , Linhagem , Convulsões Febris/fisiopatologia , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Anormalidades Dentárias/fisiopatologia , Sequenciamento Completo do Exoma
5.
Seizure ; 65: 101-105, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30659999

RESUMO

PURPOSE: Few studies have assessed the duration of the postictal state after a generalized convulsion (GC) in adults. This study aimed to investigate the postictal duration after a GC and the factors associated with it. METHODS: Patients aged ≥16 years who presented to the emergency department of a community general hospital with an unprovoked GC from January 2015 through December 2016 were evaluated retrospectively. A GC was defined as a bilateral convulsion with apparent impaired consciousness including a generalized tonic-clonic seizure. RESULTS: We evaluated 209 consecutive GCs (median age, 42 years) with the median postictal duration of 0.75 h. The univariate analyses indicated that the median duration of the postictal state was significantly longer: in elderly patients (aged ≥65 years) than in younger patients (aged <65 years) (2 h vs. 0.7 h, p = 0.0005); in patients with higher modified Rankin scale (mRS) scores (≥3) at baseline than in those with lower scores (≤2) (2.5 h vs. 0.7 h, p <0.0001); in patients with longer seizure duration (≥30 min) than in those with shorter duration (55 h vs. 0.7 h, p <0.0001); in patients who were given emergency antiepileptic drugs than in those who were not (16 h vs. 0.6 h, p <0.0001); and in patients who were intubated than in those who were not (63.5 h vs. 0.75 h, p = 0.0009). Multiple linear regression analyses indicated that older age, higher mRS scores at baseline, longer seizure duration, and administration of emergency antiepileptic drugs were independently associated with longer postictal duration. CONCLUSION: Age, baseline functional disability, and seizure duration were factors associated with the duration of the postictal state after a GC.


Assuntos
Ondas Encefálicas/fisiologia , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/fisiopatologia , Adolescente , Adulto , Fatores Etários , Anticonvulsivantes , Eletroencefalografia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Tempo , Adulto Jovem
6.
Epileptic Disord ; 20(6): 479-489, 2018 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-30530446

RESUMO

To determine the electroclinical features of fixation-off sensitivity (FOS) in patients with idiopathic generalized epilepsy (IGE). We searched the EEG database using the terms "fixation-off sensitivity" and "idiopathic generalized epilepsy" over a four-year period from March 2014 to April 2018 in the Xijing Hospital, Xi'an, China. FOS was evaluated according to the technique proposed by Panayiotopoulos. Photic stimulation procedure and neuropsychological testing were performed during video-EEG monitoring. FOS was observed in eight patients with several different IGE syndromes, including four with eyelid myoclonia/Jeavons syndrome, two with juvenile myoclonic epilepsy, one with photosensitivity epilepsy, and one with epilepsy with generalized tonic-clonic seizures only. FOS was associated with seizures in five patients manifesting with eyelid myoclonic, myoclonic, and myoclonic-tonic-clonic seizures, and eyelid myoclonic status. FOS coexisted with photosensitivity in six patients as independent EEG features. Neuropsychological testing revealed transitory cognitive impairments associated with FOS. FOS is associated with several different IGE syndromes and may coexist with photosensitivity in the same patient as independent EEG features. FOS may be associated with both clinical seizures and cognitive impairments. Intermittent photic stimulation and registration of different eye conditions with and without fixation will aid the study of the dynamics of the visual system in epilepsy patients. [Published with video sequences on www.epilepticdisorders.com].


Assuntos
Encéfalo/fisiopatologia , Disfunção Cognitiva/complicações , Epilepsia Generalizada/fisiopatologia , Epilepsia Reflexa/fisiopatologia , Adolescente , Criança , Disfunção Cognitiva/fisiopatologia , Disfunção Cognitiva/psicologia , Eletroencefalografia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/psicologia , Epilepsia Reflexa/complicações , Epilepsia Reflexa/psicologia , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Estimulação Luminosa
7.
Seizure ; 61: 135-138, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30142618

RESUMO

PURPOSE: To determine the effect of different seizure characteristics on the occurrence of postictal generalized EEG suppression (PGES). PGES is considered as a potential risk factor of sudden unexpected death in epilepsy (SUDEP) by several studies. METHODS: In this retrospective cross-sectional study, episodes of generalized convulsive seizures (GCS) were reviewed in regard to state at seizure-onset, the seizure and tonic phase durations, postictal immobility (PI) duration and whether the patient received oxygen (O2) mask during the post-ictal phase. Moreover, the presence and duration of PGES was determined for each seizure. RESULTS: Among 98 episodes of GCSs, 56 (57.1%) had PGES and 42 (42.9%) did not have PGES. The mean seizure duration for attacks with and without PGES was 106.62 ± 97.04 and 104.85 ± 91.81 s, respectively (P > 0.05). The tonic phase duration was significantly longer in PGES positive compared to PGES negative seizures (4.25 ± 3.17 s vs. 2.82 ± 3.58 s, P < 0.05). Early O2 mask administration and state of wakefulness at seizure-onset did not show any significant correlation with the presence of PGES (P > 0.05). Seizures with PGES had higher PI duration than those without PGES (156.24 s vs. 124.73 s) (P < 0.05). Interestingly, in seizures with PGES, there was a positive correlation between PI and tonic phase durations (r: 0.4, P < 0.05). CONCLUSIONS: According to our findings, higher tonic phase duration and longer PI period increased the odds of PGES formation.


Assuntos
Ondas Encefálicas/fisiologia , Eletroencefalografia , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/fisiopatologia , Adulto , Estudos Transversais , Epilepsia Generalizada/classificação , Feminino , Humanos , Masculino , Estudos Retrospectivos , Estatísticas não Paramétricas , Gravação em Vídeo
8.
Epileptic Disord ; 20(3): 169-177, 2018 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-29905157

RESUMO

Idiopathic generalised epilepsies are characterised by widespread, symmetric, bilateral spike-and-wave discharges on EEG. Onset typically occurs in children and adolescents, but may also start in adulthood. These forms of adult onset constitute the focus of this review. A critical analysis of the medical literature was conducted through a narrative review search of PubMed and Medline databases. Cases of idiopathic generalised epilepsies with adult onset, in general, are not considered to be independent nosological entities. The "grand mal on awakening" seems to prevail among the idiopathic syndromes of adult onset. The EEG findings that question the diagnosis of late-onset idiopathic generalised epilepsies consist mainly of patterns interpreted as representing focal epileptiform activity. Normal brain MRI and typical EEG abnormalities are essential for diagnosis. For all cases with symptomatology of suspected adult-onset idiopathic generalised epilepsy, it is mandatory to exclude neurological conditions that may be associated with epileptic seizures which appear in this age group. A correct diagnosis of adult-onset idiopathic generalised epilepsy alleviates concern for a symptomatic origin, leading to appropriate antiepileptic treatment.


Assuntos
Anticonvulsivantes/uso terapêutico , Encéfalo/fisiopatologia , Epilepsia Generalizada/diagnóstico , Idade de Início , Eletroencefalografia , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/fisiopatologia , Humanos
9.
Seizure ; 59: 38-40, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29734022

RESUMO

Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 13 , Epilepsia Generalizada/genética , Deficiência Intelectual/genética , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Criança , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/patologia , Epilepsia Generalizada/fisiopatologia , Face/anormalidades , Humanos , Lactente , Deficiência Intelectual/patologia , Deficiência Intelectual/fisiopatologia , Masculino , Fenótipo , Fatores de Troca de Nucleotídeo Guanina Rho/genética , Fatores de Transcrição SOXB1/genética , Irmãos
10.
Epileptic Disord ; 20(2): 123-131, 2018 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-29620008

RESUMO

Idiopathic (genetic) generalized epilepsies (IGEs) are age-related epileptic syndromes with typical age onset in childhood or adolescence. We report a patient with de novo late-onset absence status epilepticus (ASE) occurring at the age of 64 years, with clinical and EEG features suggestive of late-onset IGE. We also discuss the relationship between de novo late-onset ASE and late-onset IGE, and provide a comprehensive and critical review of the available literature on late-onset (i.e. onset ≥60 years) IGE. MEDLINE (1966-2016 [23th April]) was systematically searched in order to identify reports of patients with late-onset IGE. Grey literature was also comprehensively searched. We identified nine patients with electroclinical features suggestive of late-onset IGE. Median age at seizure onset was 71 years (range: 60-80), with a female prevalence (67%). A family history of epilepsy was reported in 67% of cases. All patients had generalized tonic-clonic seizures, and 44% also had myoclonic seizures. Treatment and outcome were reported for six patients; all of whom reached seizure freedom under monotherapy with valproic acid (83%) or lamotrigine (17%) (range of follow-up: 3 to 24 months). Late-onset IGE are entities with unknown prevalence and incidence, and should be differentiated on the basis of late-onset reactivation of previous IGE. Late-onset IGEs are probably unrecognized or misdiagnosed, based on a common misconception that all elderly individuals with first-ever seizures have focal symptomatic epilepsy. Late-onset IGE should be actively investigated by accurate history taking aimed at identifying seizures, which may have been unnoticed, and familial antecedents of epilepsy. In elderly patients presenting with de novo late-onset ASE, a diagnosis of late-onset IGE should be considered in the differential diagnosis, particularly in atypical cases (e.g. absence of triggering factors, coexistence of generalized tonic-clonic or myoclonic seizures, and interictal generalized epileptiform discharges).


Assuntos
Epilepsia Generalizada/diagnóstico , Estado Epiléptico/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Encéfalo/fisiopatologia , Diagnóstico Diferencial , Eletroencefalografia , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Pessoa de Meia-Idade , Estado Epiléptico/fisiopatologia
11.
Seizure ; 55: 70-75, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29414138

RESUMO

PURPOSE: To assess the sensitivity of Persyst version 12 QEEG spectrograms to detect focal, focal with secondarily generalized, and generalized onset seizures. METHODS: A cohort of 562 seizures from 58 patients was analyzed. Successive recordings with 2 or more seizures during continuous EEG monitoring for clinical indications in the ICU or EMU between July 2016 and January 2017 were included. Patient ages ranged from 5 to 64 years (mean = 36 years). There were 125 focal seizures, 187 secondarily generalized and 250 generalized seizures from 58 patients analyzed. Seizures were identified and classified independently by two epileptologists. A correlate to the seizure pattern in the raw EEG was sought in the QEEG spectrograms in 4-6 h EEG epochs surrounding the identified seizures. A given spectrogram was interpreted as indicating a seizure, if at the time of a seizure it showed a visually significant departure from the pre-event baseline. Sensitivities for seizure detection using each spectrogram were determined for each seizure subtype. RESULTS: Overall sensitivities of the QEEG spectrograms for detecting seizures ranged from 43% to 72%, with highest sensitivity (402/562,72%) by the seizure detection trend. The asymmetry spectrogram had the highest sensitivity for detecting focal seizures (117/125,94%). The FFT spectrogram was most sensitive for detecting secondarily generalized seizures (158/187, 84%). The seizure detection trend was the most sensitive for generalized onset seizures (197/250,79%). CONCLUSIONS: Our study suggests that different seizure types have specific patterns in the Persyst QEEG spectrograms. Identifying these patterns in the EEG can significantly increase the sensitivity for seizure identification.


Assuntos
Eletroencefalografia , Convulsões/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Eletroencefalografia/métodos , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Convulsões/fisiopatologia , Sensibilidade e Especificidade , Adulto Jovem
12.
Epilepsia ; 59(3): 523-529, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29327337

RESUMO

OBJECTIVE: Clinical absences are now classified as "generalized nonmotor (absence) seizures" by the International League Against Epilepsy (ILAE). The aim of this paper is to critically review the concept of absences and to put the accompanying focal and motor symptoms into the context of the emerging pathophysiological knowledge. METHODS: For this narrative review we performed an extensive literature search on the term "absence," and analyzed the plethora of symptoms observed in clinical absences. RESULTS: Arising from the localization and the involved cortical networks, motor symptoms may include bilateral mild eyelid fluttering and mild myoclonic jerks of extremities. These motor symptoms may also occur unilaterally, analogous to a focal motor seizure with Jacksonian march. Furthermore, electroencephalography (EEG) abnormalities may exhibit initial frontal focal spikes and consistent asymmetries. Electroclinical characteristics support the cortical focus theory of absence seizures. Simultaneous EEG/functional magnetic resonance imaging (fMRI) measurements document cortical deactivation and thalamic activation. Cortical deactivation is related to slow waves and disturbances of consciousness of varying degrees. Motor symptoms correspond to the spike component of the 3/s spike-and-wave-discharges. Thalamic activation can be interpreted as a response to overcome cortical deactivation. Furthermore, arousal reaction during drowsiness or sleep triggers spikes in an abnormally excitable cortex. An initial disturbance in arousal mechanisms ("dyshormia") might be responsible for the start of this abnormal sequence. SIGNIFICANCE: The classification as "generalized nonfocal and nonmotor (absence) seizure" does not covey the complex semiology of a patient's clinical events.


Assuntos
Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/fisiopatologia , Eletroencefalografia/métodos , Humanos
13.
Epilepsia ; 59(2): 389-402, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29315614

RESUMO

OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg). SIGNIFICANCE: Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.


Assuntos
Epilepsias Mioclônicas/fisiopatologia , Proteínas da Membrana Plasmática de Transporte de GABA/genética , Deficiência Intelectual/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Ataxia/complicações , Ataxia/genética , Ataxia/fisiopatologia , Criança , Pré-Escolar , Estudos de Coortes , Eletroencefalografia , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/genética , Epilepsias Parciais/complicações , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Feminino , Estudos de Associação Genética , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/complicações , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Mutação , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Resultado do Tratamento , Ácido Valproico/uso terapêutico , Adulto Jovem
15.
J Korean Med Sci ; 33(3): e17, 2018 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-29215804

RESUMO

BACKGROUND: In this study, we aimed to identify cognitive function and neuropsychological comorbidities in children with newly diagnosed idiopathic epilepsy. METHODS: We retrospectively reviewed the records of 97 antiepileptic drug-naïve children (9.7 ± 2.9 years; 54 males and 43 females) with newly diagnosed idiopathic epilepsy, all of whom underwent a neuropsychological battery. The battery consisted of the Korean Wechsler Intelligence Scale, Attention Deficit Hyperactivity Disorder (ADHD) Rating Scale, ADHD Diagnostic System, Children's Depression Inventory, and State-Trait Anxiety Inventory for Children. We investigated association between scores of the neuropsychological battery and epilepsy classification, lateralization of interictal epileptiform discharges (IEDs) on electroencephalography (EEG), and variables related to seizures. RESULTS: Thirteen patients (14.3%) had ADHD symptoms. Three patients (4.1%) had depressive symptoms, and 9 (12.3%) had anxiety symptoms. Patients with idiopathic generalized epilepsy (IGE) had significantly lower full-scale intelligence and performance intelligence quotient scores than patients with idiopathic localization-related epilepsy (ILRE) (89.0 ± 17.6 vs. 96.3 ± 14.8; P = 0.030 and 88.9 ± 16.3 vs. 97.0 ± 16.4; P = 0.016, respectively). Patients with ILRE having unilateral IEDs had significantly higher full-scale intelligence quotient scores than patients with ILRE having bilateral IEDs and patients with IGE (99.9 ± 12.2 vs. 93.7 ± 16.1 vs. 89.0 ± 17.6; P = 0.039, respectively). CONCLUSION: Our results suggest that idiopathic epilepsy may be accompanied by various neuropsychological comorbidities even at initial diagnosis. Patients with IGE and ILRE having bilateral IEDs on EEG appear more likely to be at high risk of decreased cognitive function.


Assuntos
Cognição/fisiologia , Epilepsia Generalizada/diagnóstico , Adolescente , Ansiedade/complicações , Ansiedade/diagnóstico , Ansiedade/fisiopatologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Transtorno Depressivo/complicações , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/fisiopatologia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Inteligência , Imagem por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Estudos Retrospectivos
16.
Epileptic Disord ; 20(1): 35-41, 2018 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-29171397

RESUMO

Accurate diagnosis of a distinct epilepsy syndrome is based on well-defined electroclinical features that differentiate separate nosological entities. In clinical practice, however, syndromes may overlap and cases may present with unusual manifestations posing a diagnostic challenge. This heterogeneity has been documented in several cases presenting with eyelid myoclonia with or without absences (EMA) diagnosed either as Jeavons syndrome (JS) variants or as genetic generalised epilepsies defined by the presence of this unique clinical entity. The hallmark of JS is the triad: (1) eyelid myoclonia with or without absences, (2) eye closure-induced paroxysms, and (3) photosensitivity. The presence of massive myoclonus, intellectual disability, or slowing of the EEG background are not typical features of the syndrome and may cause delay in making the correct diagnosis. Adding to the variability of clinical features, we describe two female paediatric patients with probable genetic epilepsy who presented with EMA but demonstrated clear atypical features, such as prominent myoclonic seizures, atonic components on video-EEG, and cognitive impairment. We also note the presence of interictal and ictal posterior discharges during eyelid myoclonia in one, supporting similar previous observations leading to consideration of EMA as an occipital cortex-initiated seizure activity. [Published with video sequences on www.epilepticdisorders.com].


Assuntos
Epilepsias Mioclônicas/diagnóstico , Epilepsia Generalizada/diagnóstico , Mioclonia/diagnóstico , Adolescente , Criança , Eletroencefalografia , Epilepsias Mioclônicas/classificação , Epilepsias Mioclônicas/fisiopatologia , Epilepsia Generalizada/classificação , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Mioclonia/classificação , Mioclonia/fisiopatologia
17.
J Clin Neurophysiol ; 35(3): 270-272, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-28800038

RESUMO

Subclinical rhythmic discharges of adult (SREDA) is a rare benign EEG variant in adults and is of unknown clinical significance. Its occurrence in children is extremely rare. In review of the literature, it has been described in only four children. We present a case of a 10-year-old female with generalized idiopathic childhood absence epilepsy who is noted to have SREDA in three subsequent EEGs performed across a 25-month span. She had no clinical change with these discharges and it was believed to be a benign variant. Including our patient, three of four children with SREDA presented with generalized epilepsy leading to the conclusion that, although rare, SREDA is more common in children presenting with generalized epilepsy.


Assuntos
Encéfalo/fisiopatologia , Eletroencefalografia , Epilepsia Generalizada/fisiopatologia , Criança , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Generalizada/diagnóstico , Feminino , Humanos
18.
Clin Neurophysiol ; 128(12): 2454-2461, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29096220

RESUMO

OBJECTIVE: Ear-EEG is recording of electroencephalography from a small device in the ear. This is the first study to compare ictal and interictal abnormalities recorded with ear-EEG and simultaneous scalp-EEG in an epilepsy monitoring unit. METHODS: We recorded and compared simultaneous ear-EEG and scalp-EEG from 15 patients with suspected temporal lobe epilepsy. EEGs were compared visually by independent neurophysiologists. Correlation and time-frequency analysis was used to quantify the similarity between ear and scalp electrodes. Spike-averages were used to assess similarity of interictal spikes. RESULTS: There were no differences in sensitivity or specificity for seizure detection. Mean correlation coefficient between ear-EEG and nearest scalp electrode was above 0.6 with a statistically significant decreasing trend with increasing distance away from the ear. Ictal morphology and frequency dynamics can be observed from visual inspection and time-frequency analysis. Spike averages derived from ear-EEG electrodes yield a recognizable spike appearance. CONCLUSIONS: Our results suggest that ear-EEG can reliably detect electroencephalographic patterns associated with focal temporal lobe seizures. Interictal spike morphology from sufficiently large temporal spike sources can be sampled using ear-EEG. SIGNIFICANCE: Ear-EEG is likely to become an important tool in clinical epilepsy monitoring and diagnosis.


Assuntos
Orelha Externa/fisiologia , Eletroencefalografia/métodos , Epilepsia Generalizada/fisiopatologia , Epilepsia do Lobo Temporal/fisiopatologia , Couro Cabeludo/fisiologia , Potenciais de Ação/fisiologia , Adolescente , Adulto , Eletroencefalografia/instrumentação , Epilepsia Generalizada/diagnóstico , Epilepsia do Lobo Temporal/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
19.
Epilepsy Behav ; 77: 26-29, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29073474

RESUMO

INTRODUCTION: Transcranial magnetic stimulation (TMS) is a noninvasive technique for investigating cortical physiologic functions in the brain. In this study, the effects of continuous theta burst stimulation (cTBS) on motor evoked potential (MEP) parameters in patients with idiopathic generalized epilepsy (IGE) were investigated. MATERIALS AND METHODS: Fifteen patients with IGE were included. Motor threshold (MT) and cortical silent period (CSP) were determined before cTBS application. Next, cTBS was applied to the dominant (left) hemisphere M1 hand area as the first application. After 1 day, cTBS was applied first to the left M1 hand area and then to the right lateral cerebellar area as the second application. Parameters were again determined after the applications. RESULTS: There was no difference in resting MT values before and after cTBS application (p>0.05). Although CSP increased after stimulation (p<0.05), it was not significantly different between applications (p>0.05). CONCLUSION: For patients with epilepsy, cTBS is a safe technique when applied at a low intensity. The inhibitory effect of cTBS, a noninvasive technique, on cortical excitability in patients with IGE was determined using MEP parameters. The effect lasted at least 1 h. To our knowledge, this is the first study to assess the effect of cTBS on cortical excitability in patients with IGE. Our findings indicate that cTBS decreases cortical excitability in patients with IGE.


Assuntos
Epilepsia Generalizada/fisiopatologia , Potencial Evocado Motor/fisiologia , Córtex Motor/fisiopatologia , Adolescente , Cerebelo/fisiopatologia , Feminino , Humanos , Masculino , Estimulação Magnética Transcraniana/métodos , Adulto Jovem
20.
Epilepsy Res ; 137: 107-111, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28985614

RESUMO

Complement system dysregulation has been hypothesized as a possible pathogenetic factor triggering epileptogenesis in both animal models and human studies. The aim of the present study is to evaluate the complement system in adult patients affected by idiopathic generalized epilepsy (IGE), either untreated or treated by antiepileptic drugs (AEDs). Thirty-seven IGE patients were compared to a population of 20 matched healthy controls. IGE patients underwent neurological investigation, epilepsy diary, 24-h EEG recording, and blood sample for the assessment of the complement factors C3 and C4, fibrinogen, and C-reactive protein (CRP) serum levels. We excluded patients with clinical and subclinical seizures in the 24h before obtaining the blood sample. We observed decreased C3 and C4 serum levels in IGE patients with respect to controls (p<0.05), and in untreated compared to treated IGE patients (p<0.05). We found significant correlations in the IGE group linking C3 to C4 (R=0.34), CRP (R=0.49), and fibrinogen serum levels (R=0.61). This study proved a significant alteration of the complement system in IGE patients not related to ictal conditions. The hyperactivation of the complement cascade was more significant in untreated than in treated IGE patients. Hence, this study documented the complement factors dysregulation in patients affected by IGE. However, the impact of complement system alteration in the epileptogenetic process needs to be clarified.


Assuntos
Anticonvulsivantes/uso terapêutico , Proteínas do Sistema Complemento/metabolismo , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/fisiopatologia , Adulto , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Eletroencefalografia , Feminino , Fibrinogênio/metabolismo , Humanos , Masculino , Adulto Jovem
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