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OBJECTIVE: Epilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study was to describe the clinical features, cognitive profile, and prognostic factors in a series of children with EEM. METHODS: This is a retrospective observational study of patients diagnosed with EEM from 2012 to 2022 in a tertiary pediatric hospital. RESULTS: Seventeen patients were analyzed (mean age at symptom onset 5.8 years). Neuropsychiatric comorbidities were present in 76.4% (attention deficit hyperactivity disorder 58.8%, behavioral disorder 11.8%, autism spectrum disorder 11.8%, and psychotic outbreaks 11.8%). Neurocognitive assessment was performed in 75%, revealing cognitive impairment in 66.6% (62.5% with borderline intellectual function and 37.5% with -IQ <70-), with predominant difficulties in executive functions, comprehensive language, and motor skills. Cognitive deterioration was observed in one patient in parallel onset with psychotic symptoms. High refractoriness to antiseizure medication (ASM) was observed, with only 23.5% of the patients being seizure-free after a mean follow-up of 7 years. The most effective ASM was valproic acid, and two of them received ketogenic diet with good response. Regarding prognostic factors, psychotic symptoms were associated with a greater number of antiseizure medication (p < .05) implying a more drug-resistant epilepsy. SIGNIFICANCE: In our study, we found a high rate of cognitive and psychiatric comorbidities and high refractoriness. These data support the concept of EEM as an intermediate entity between idiopathic generalized epilepsy and epileptic and/or neurodevelopmental encephalopathy. Making a proper diagnosis and management of these comorbidities is necessary to improve prognosis and quality of life in EEM.
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Paediatric epilepsy surgery is an increasingly used evidence-based management option with low risks for complications. Developments in neuroimaging techniques and other advanced diagnostics have widened the spectrum of children who could benefit from the procedure, and surgery is now considered a standard management approach for epilepsy. Available data indicate that early surgery improves outcomes. Despite these considerable advances, epilepsy surgery in children is still underused. In this Review, we summarise the indications, patient selection, principles of presurgical investigations, optimal timing, and types of epilepsy surgery. We also examine comprehensive outcomes after surgery, including seizure outcomes, complications, cognition, neurodevelopment, vocational outcome, and health-related quality of life of children and their parents. Successful epilepsy surgery could lead to improvement in all these areas. Children should, therefore, be referred early for evaluation in an appropriately competent centre.
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Epilepsia , Qualidade de Vida , Adolescente , Criança , Epilepsia/cirurgia , Humanos , Neuroimagem , Seleção de Pacientes , ConvulsõesRESUMO
Familial partial epilepsy with variable foci (FPEVF) is an autosomal dominant form of partial epilepsy characterized by the presence of epileptic seizures originating from different cerebral lobes in different members of the same family. Linkage to chromosomes 22q12 and 2q36 has been reported, although only six families have been published. We studied a new FPEVF family including nine affected individuals. The phenotype in this family was similar to that previously described and consisted of nocturnal and daytime seizures with semiology suggesting a frontal lobe origin. A video-EEG (electroencephalography) recording of the proband's seizures is presented and revealed hyperkinetic seizures of frontal lobe origin preceded by left frontal spikes. We excluded linkage to chromosome 2q36 and found a suggestion of linkage to chromosome 22q12 with a lod score of 2.64 (h = 0) for marker D22S689.
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Mapeamento Cromossômico/estatística & dados numéricos , Cromossomos Humanos Par 22/genética , Epilepsias Parciais/genética , Ligação Genética , Proteínas 14-3-3/genética , Adulto , Cromossomos Humanos Par 2/genética , Epilepsias Parciais/diagnóstico , Epilepsia do Lobo Frontal/diagnóstico , Epilepsia do Lobo Frontal/genética , Família , Feminino , Genótipo , Humanos , Escore Lod , Masculino , Pessoa de Meia-Idade , Epilepsia Mioclônica Juvenil/diagnóstico , Epilepsia Mioclônica Juvenil/genética , LinhagemRESUMO
A benign prognosis has been claimed in benign familial infantile seizures (BFIS). However, few studies have assessed the long-term evolution of these patients. The objective of this study is to describe atypical courses and presentations in BFIS families with mutations in PRRT2 gene. We studied clinically affected individuals from five BFIS Spanish families. We found mutations in PRRT2 in all 5 families. A non-BFIS phenotype or an atypical BFIS course was found in 9/25 (36%) patients harbouring a PRRT2 mutation. Atypical features included neonatal onset, mild hemiparesis, learning difficulties or mental retardation, and recurrent seizures during adulthood. We also report a novel PRRT2 mutation (c.121_122delGT). In BFIS families an atypical phenotype was present in a high percentage of the patients. These findings expand the clinical spectrum of PRRT2 mutations including non-benign epileptic phenotypes.
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Epilepsia Neonatal Benigna/epidemiologia , Epilepsia Neonatal Benigna/genética , Proteínas de Membrana/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Adolescente , Adulto , Criança , Pré-Escolar , Epilepsia Neonatal Benigna/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Espanha/epidemiologia , Adulto JovemRESUMO
PURPOSE OF REVIEW: This article reviews the most significant advances in the field of genetics of the epilepsies during the past year, with emphasis on newly identified genes and functional studies leading to new insights into the pathophysiology of epilepsy. RECENT FINDINGS: Mutations in the chloride channel gene CLCN2 have been associated with the most common forms of idiopathic generalized epilepsies. A mutation in the ATP1A2 sodium potassium ATPase pump gene has been described in a family in which familial hemiplegic migraine and benign familial infantile convulsions partly co-segregate. The leucine-rich, glioma-inactivated 1 gene (LGI1) (also known as epitempin) was found to be responsible for autosomal-dominant lateral temporal lobe epilepsy in additional families. The serine-threonine kinase 9 gene (STK9) was identified as the second gene associated with X-linked infantile spasms. Mutations in the Aristaless-related homeobox gene (ARX) have been recognized as a cause of X-linked infantile spasms and sporadic cryptogenic infantile spasms. A second gene underlying progressive myoclonus epilepsy of Lafora, NHLRC1, was shown to code for a putative E3 ubiquitin ligase. SUMMARY: Genes associated with idiopathic generalized epilepsies remain within the ion channel family. Mutations in non-ion channel genes are responsible for autosomal-dominant lateral temporal lobe epilepsy, a form of idiopathic focal epilepsy, malformations of cortical development, and syndromes that combine X-linked mental retardation and epilepsy. Most genetic epilepsies have a complex mode of inheritance, and genes identified so far account only for a minority of families and sporadic cases. Functional studies are leading to a better understanding of the mechanisms underlying hyperexcitability and seizures.
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Epilepsia/genética , Predisposição Genética para Doença/genética , Proteínas de Transporte/genética , Criança , Pré-Escolar , Canais de Cloreto/genética , Cromossomos Humanos X , Análise Mutacional de DNA , Epilepsia/fisiopatologia , Genótipo , Proteínas de Homeodomínio/genética , Humanos , Lactente , Recém-Nascido , Peptídeos e Proteínas de Sinalização Intracelular , Proteínas Serina-Treonina Quinases/genética , Proteínas/genética , Aberrações dos Cromossomos Sexuais , ATPase Trocadora de Sódio-Potássio/genética , Espasmos Infantis/genética , Fatores de Transcrição/genética , Ubiquitina-Proteína LigasesRESUMO
Paroxysmal dyskinesia due to a subthalamic lesion is a rare finding. We describe a patient with paroxysmal tonic spasms due to a well-defined lesion in the subthalamic area. In this case, we confirm the nonepileptic nature of the episode and collect with detail the clinical features by means of a video-electroencephalographic recording. We also report an excellent response to carbamazepine in subthalamic paroxysmal dyskinesias.