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1.
Pharmacol Res ; 107: 211-219, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-26995307

RESUMO

Nowadays a substantial armamentarium of antiepileptic drugs (AEDs) is available, including drugs with different mechanisms of action, pharmacokinetics, efficacy and tolerability; therefore the choice for the right treatment is often challenging. The specific characteristic of the drug, the epileptic syndrome, seizure types and the patient's features need to be taken into consideration driving the choice through available evidence-based studies, which are often lacking for older AEDs. Besides, study conditions in registered clinical trials (RCTs) are quite different from daily clinical practice, which is more complex and various. When dealing with first diagnosed epilepsy, monotherapy is widely accepted as the gold standard option. Likewise, alternative monotherapy should be considered when the first drug treatment fails. However, the association of different AEDs in polytherapy is a common practice. The choice of AEDs used in association is often based on clinical experience or anecdotal observations or small clinical studies. Polytherapy should be as "rational" as possible and consider the mechanism of action, the pharmacokinetic characteristics and the safety of each drug. When dealing with drug resistant patients, clinicians should never give up and consider the use of AEDs acting on new targets. An attempt to come back to a monotherapy or simpler therapeutic regimen should be pursued even in patients who were previously drug resistant. This review will focus on the strategies to treat epilepsy by choosing among 25 available drugs.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Animais , Humanos , Convulsões/tratamento farmacológico
2.
Epilepsy Behav ; 56: 38-43, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26827300

RESUMO

OBJECTIVE: The objective of this report was to assess the psychiatric comorbidity in a group of patients affected by autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME). METHODS: Reliable and validated psychodiagnostic scales including the BDI (Beck Depression Inventory), STAI-Y1 and 2 (State-Trait Anxiety Inventory - Y; 1 and 2), MMPI-2 (Minnesota Multiphasic Personality Inventory - 2), and QoLIE-31 (Quality of Life in Epilepsy Inventory - 31) were administered to 20 patients with ADCME, 20 patients with juvenile myoclonic epilepsy (JME), and 20 healthy controls. RESULTS: There was a higher prevalence of mood disorders in patients with ADCME compared to patients with JME and healthy controls, particularly depression (p=0.035 and p=0.017, respectively) and state anxiety (p=0.024 and p=0.019, respectively). Trait anxiety was not different from JME (p=0.102) but higher than healthy controls (p=0.017). The myoclonus score positively correlated with both state (rho: 0.58, p=0.042) and trait anxiety (rho: 0.65, p=0.011). These psychiatric features were also often associated with pathological traits of personality: paranoid (OR: 25.7, p=0.003), psychasthenia (OR: 7.0, p=0.023), schizophrenia (OR: 8.5, p=0.011), and hypomania (OR: 5.5, p=0.022). Finally, in patients with ADCME, decreased quality of life correlated with these psychiatric symptoms. SIGNIFICANCE: Patients with ADCME show a significant psychiatric burden that impairs their quality of life. A comprehensive psychiatric evaluation should be offered at the time of diagnosis to detect these comorbidities and to treat them.


Assuntos
Epilepsia/psicologia , Transtornos Mentais/psicologia , Mioclonia/psicologia , Tremor/psicologia , Adulto , Ansiedade/epidemiologia , Ansiedade/psicologia , Depressão/epidemiologia , Depressão/psicologia , Epilepsia/complicações , Epilepsia/epidemiologia , Feminino , Humanos , Itália/epidemiologia , Masculino , Transtornos Mentais/complicações , Transtornos Mentais/epidemiologia , Pessoa de Meia-Idade , Transtornos do Humor/complicações , Transtornos do Humor/epidemiologia , Epilepsia Mioclônica Juvenil/complicações , Epilepsia Mioclônica Juvenil/psicologia , Mioclonia/complicações , Mioclonia/epidemiologia , Transtornos da Personalidade/epidemiologia , Transtornos da Personalidade/psicologia , Prevalência , Escalas de Graduação Psiquiátrica , Transtornos Psicóticos/complicações , Transtornos Psicóticos/epidemiologia , Qualidade de Vida , Tremor/complicações , Tremor/epidemiologia , Adulto Jovem
3.
Epilepsia ; 56(10): e168-71, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26216793

RESUMO

Mutations in the DEPDC5 (DEP domain-containing protein 5) gene are a major cause of familial focal epilepsy with variable foci (FFEVF) and are predicted to account for 12-37% of families with inherited focal epilepsies. To assess the clinical impact of DEPDC5 mutations in familial temporal lobe epilepsy, we screened a collection of Italian families with either autosomal dominant lateral temporal epilepsy (ADLTE) or familial mesial temporal lobe epilepsy (FMTLE). The probands of 28 families classified as ADLTE and 17 families as FMTLE were screened for DEPDC5 mutations by whole exome or targeted massive parallel sequencing. Putative mutations were validated by Sanger sequencing. We identified a DEPDC5 nonsense mutation (c.918C>G; p.Tyr306*) in a family with two affected members, clinically classified as FMTLE. The proband had temporal lobe seizures with prominent psychic symptoms (déjà vu, derealization, and forced thoughts); her mother had temporal lobe seizures, mainly featuring visceral epigastric auras and anxiety. In total, we found a single DEPDC5 mutation in one of (2.2%) 45 families with genetic temporal lobe epilepsy, a proportion much lower than that reported in other inherited focal epilepsies.


Assuntos
Epilepsia do Lobo Temporal/genética , Saúde da Família , Mutação/genética , Proteínas Repressoras/genética , Adulto , Análise Mutacional de DNA , Feminino , Proteínas Ativadoras de GTPase , Humanos , Itália , Masculino
4.
Epilepsia ; 54(5): e69-73, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23448223

RESUMO

15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy appears to be a common feature and, specifically, the 15q13.3 microdeletion is found in about 1% of patients with idiopathic generalized epilepsy. Recently, absence seizures with intellectual disability (ID) have been reported in patients carrying this mutation. We describe two families in which several affected members carry a 15q13.3 microdeletion in a pattern suggestive of autosomal dominant inheritance. Their phenotype includes mainly absence epilepsy and mild ID, suggesting only similarities with genetic/idiopathic generalized epilepsies but not typical features. The importance of studying such families is crucial to broaden the phenotype and understand the long-term outcome of patients with this condition.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Epilepsia Generalizada/genética , Predisposição Genética para Doença , Adolescente , Adulto , Eletroencefalografia , Epilepsia Generalizada/patologia , Saúde da Família , Feminino , Humanos , Inteligência , Itália , Imageamento por Ressonância Magnética , Masculino , Mutação
5.
Epilepsia ; 54(7): 1288-97, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23621105

RESUMO

PURPOSE: In relatively small series, autosomal dominant lateral temporal epilepsy (ADLTE) has been associated with leucine-rich, glioma-inactivated 1 (LGI1) mutations in about 50% of the families, this genetic heterogeneity being probably caused by differences in the clinical characteristics of the families. In this article we report the overall clinical and genetic spectrum of ADLTE in Italy with the aim to provide new insight into its nosology and genetic basis. METHODS: In a collaborative study of the Commission of Genetics of the Italian League Against Epilepsy (LICE) encompassing a 10-year period (2000-2010), we collected 33 ADLTE families, selected on the basis of the following criteria: presence of at least two members concordant for unprovoked partial seizures with prominent auditory and or aphasic symptoms, absence of any known structural brain pathology or etiology, and normal neurologic examination. The clinical, neurophysiologic, and neuroradiologic findings of all patients were analyzed and a genealogic tree was built for each pedigree. The probands' DNA was tested for LGI1 mutations by direct sequencing and, if negative, were genotyped with single-nucleotide polymorphism (SNP) array to search for disease-linked copy-number variation CNV. The disease penetrance in mutated and nonmutated families was assessed as a proportion of obligate carriers who were affected. KEY FINDINGS: The 33 families included a total of 127 affected individuals (61 male, 66 female, 22 deceased). The age at onset ranged between 2 and 60 years (mean 18.7 years). Ninety-one patients (72%) had clear-cut focal (elementary, complex, or secondarily generalized) seizures, characterized by prominent auditory auras in 68% of the cases. Other symptoms included complex visual hallucinations, vertigo, and déjà vu. Aphasic seizures, associated or not with auditory features, were observed in 20% of the cases, whereas tonic-clonic seizures occurred in 86% of the overall series. Sudden noises could precipitate the seizures in about 20% of cases. Seizures, which usually occurred at a low frequency, were promptly controlled or markedly improved by antiepileptic treatment in the majority of patients. The interictal electroencephalography (EEG) studies showed the epileptiform temporal abnormalities in 62% of cases, with a slight predominance over the left region. Magnetic resonance imaging (MRI) or computerized tomography (CT) scans were negative. LGI1 mutations (missense in nine and a microdeletion in one) were found in only 10 families (30%). The patients belonging to the mutated and not mutated groups did not differ except for penetrance estimate, which was 61.3% and 35% in the two groups, respectively (chi-square, p = 0.017). In addition, the disease risk of members of families with mutations in LGI1 was three times higher than that of members of LGI1-negative families (odds ratio [OR] 2.94, confidence interval [CI] 1.2-7.21). SIGNIFICANCE: A large number of ADLTE families has been collected over a 10-year period in Italy, showing a typical and homogeneous phenotype. LGI1 mutations have been found in only one third of families, clinically indistinguishable from nonmutated pedigrees. The estimate of penetrance and OR, however, demonstrates a significantly lower penetrance rate and relative disease risk in non-LGI1-mutated families compared with LGI1-mutated pedigrees, suggesting that a complex inheritance pattern may underlie a proportion of these families.


Assuntos
Epilepsia do Lobo Temporal/genética , Saúde da Família , Genes Dominantes/genética , Mutação/genética , Penetrância , Proteínas/genética , Estimulação Acústica , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Análise Mutacional de DNA , Eletroencefalografia , Epilepsia do Lobo Temporal/fisiopatologia , Feminino , Genótipo , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Itália , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Retrospectivos , Adulto Jovem
6.
Epilepsy Behav ; 24(1): 7-13, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22503469

RESUMO

Hypothalamic hamartoma (HH) can be associated with a wide spectrum of epileptic conditions, ranging from a mild form with seizures characterized by urge to laugh and no cognitive involvement up to a catastrophic encephalopathy with early onset gelastic seizures (GS), precocious puberty, and mental retardation. Moreover, a refractory, either focal or generalized, epilepsy develops during the clinical course in nearly all the cases. Neurophysiologic and neuroimaging studies have demonstrated that HH itself generates GS and starts a process of secondary epileptogenesis responsible for refractory focal or generalized epilepsy. The intrinsic epileptogenicity of HH may be explained by the neurophysiological properties of small GABAergic, spontaneously firing HH neurons. Surgical ablation of HH can reverse epilepsy and encephalopathy. Gamma-knife radiosurgery and image-guided robotic radiosurgery seem to be useful and safe approaches for treatment, in particular of small HH. Here, we review this topic, based on literature reports and our personal observations. In addition, we discuss pathogenetic hypotheses and suggest new approaches to this intriguing issue.


Assuntos
Epilepsias Parciais/complicações , Hamartoma/complicações , Doenças Hipotalâmicas/complicações , Adolescente , Adulto , Eletroencefalografia , Epilepsias Parciais/radioterapia , Epilepsias Parciais/cirurgia , Feminino , Hamartoma/radioterapia , Hamartoma/cirurgia , Humanos , Doenças Hipotalâmicas/radioterapia , Doenças Hipotalâmicas/cirurgia , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Radiocirurgia , Radioterapia , Adulto Jovem
7.
Epilepsia ; 52(7): 1245-50, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21426326

RESUMO

PURPOSE: To investigate for the first time the natural history and long-term evolution of "familial cortical tremor, myoclonus, and epilepsy." METHODS: We evaluated the clinical, electrophysiologic, and treatment data of 14 patients from three families linked to 2p11.1-q12.2. A simplified scale was used to score myoclonus severity. Electroencephalography (EEG) studies were reviewed for the evaluation of background activity, paroxysmal abnormalities, and photoparoxysmal response. Data were organized for age groups. Correlation and logistic regression analysis were performed. KEY FINDINGS: Patients' mean age was 47.8 ± 22.0 years (range 20-86 years). Mean age at disease onset was 20.2 ± 7.8 years (range 11-40 years); mean follow-up duration was 14.0 ± 5.8 years (range 7-28 years). Evaluation at different age groups revealed a gradual, progressive worsening of the myoclonus in 10 patients (71.4%). Two subjects aged >80 years showed myoclonus interfering with autonomous walking. Myoclonus severity was correlated with disease duration (p<0.001) and patients' age (p=0.001). Six patients (42.8%) experienced seizures, usually between the second and sixth decades of life. Evaluation of EEG long-term evolution revealed progressive slowing of background activity in parallel with the gradual worsening of myoclonus. In contrast, paroxysmal activity and photosensitivity were particularly evident during the intermediate phases of the disease. In addition, psychiatric and neuropsychological dysfunction occurred in more than one third of the patients. SIGNIFICANCE: We provide data for a slight age-dependent progression and the presence of neuropsychiatric and neuropsychological dysfunction in this unique syndrome, for which the definition of familial or autosomal dominant cortical tremor, myoclonus, and epilepsy (FCTME/ADCME) seems to be, therefore, more appropriate.


Assuntos
Epilepsias Mioclônicas/genética , Epilepsia/genética , Tremor/genética , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Encéfalo/fisiopatologia , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/fisiopatologia , Cromossomos Humanos 1-3/genética , Progressão da Doença , Eletroencefalografia , Epilepsias Mioclônicas/fisiopatologia , Epilepsia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Síndrome , Tremor/fisiopatologia , Adulto Jovem
8.
Seizure ; 65: 131-137, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30685520

RESUMO

PURPOSE: Heterozygous SYNGAP1 gene mutations have been associated with several forms of idiopathic generalized epilepsy, autism spectrum disorders and delay of psychomotor development. We report eight patients with a SYNGAP1 mutation and chewing/eating induced reflex seizures as new phenotype and compare them to other patients with eating epilepsy and genetic mutations. METHODS: Presentation of clinical and anamnestic features and retrospective analysis of Video-EEG data of a 4 year old index patient with SYNGAP1 mutation and chewing /eating induced seizures. Clinical and anamnestic features and home videos of seven additional patients (4 female; age: 4-14 years) with SYNGAP1 mutation and eating induced reflex seizures were compared. RESULTS: All reflex seizures of the index patient showed similar focal EEG pattern with 1-5 seconds high amplitude, irregular 3/sec spike-wave complexes with initiation from left temporo-occipital, right temporo-occipital or bi- occipital / temporo-occipital regions. Eyelid myoclonia, the most common seizure type in all 8 patients, were typically initiated by eating or other simple orofacial stimuli. In the index patient eye closure preceded eating induced-eyelid myoclonia in 30/38 seizures. CONCLUSION: The main clinical features of our patient (i.e. intellectual disability, epilepsy, autistic features) are compatible with previous reports on patients with SYNGAP1 mutations. This is the first complete description of eating induced seizures in association with SYNGAP1 mutations. Whether eye closure sensitivity (ECS) represents an independent reflex epileptic trait, as seen in other patients with idiopathic "generalized" epilepsies (IGE), or eye closure is part of a complex trigger mechanism in SYNGAP1 patients' remains to be elucidated.


Assuntos
Epilepsia Reflexa , Olho , Mastigação , Mutação/genética , Mioclonia , Proteínas Ativadoras de ras GTPase/genética , Adolescente , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia Reflexa/diagnóstico , Epilepsia Reflexa/etiologia , Epilepsia Reflexa/genética , Olho/inervação , Feminino , Humanos , Masculino , Mioclonia/diagnóstico , Mioclonia/etiologia , Mioclonia/genética
10.
Brain Dev ; 38(7): 663-8, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26897099

RESUMO

The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis by using aCGH. We identified a de novo microdeletion on chromosome 17q21.31, compatible with Koolen-de Vries syndrome. Our case shares some of the typical characteristics of the syndrome already described by other authors: delayed psychomotor development, primarily affecting the expressive language, dysmorphic facial features, and epilepsy. However the clinical outcome was not severe as the intellectual disabilities were moderate with good adaptive and functional behaviour. Epilepsy was easily controlled by a single drug, and he never needed surgery for organ abnormalities.


Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/tratamento farmacológico , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Deleção Cromossômica , Cromossomos Humanos Par 17/genética , Hibridização Genômica Comparativa , Eletroencefalografia , Epilepsia/tratamento farmacológico , Epilepsia/genética , Epilepsia/patologia , Epilepsia/fisiopatologia , Face/anormalidades , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/tratamento farmacológico , Imageamento por Ressonância Magnética , Masculino , Proteínas Nucleares/genética , Pais , Fenótipo , Receptores de Hormônio Liberador da Corticotropina/genética
11.
Epilepsy Res ; 110: 132-8, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25616465

RESUMO

PURPOSE: Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy syndrome characterized by prominent auditory or aphasic symptoms. Mutations in LGI1 account for less than 50% of ADLTE families. We assessed the impact of LGI1 microrearrangements in a collection of ADLTE families and sporadic lateral temporal epilepsy (LTE) patients, and investigated novel ADLTE and LTE patients. METHODS: Twenty-four ADLTE families and 140 sporadic LTE patients with no evidence of point mutations in LGI1 were screened for copy number alterations using multiplex ligation-dependent probe amplification (MLPA). Newly ascertained familial and sporadic LTE patients were clinically investigated, and interictal EEG and MRI findings were obtained; probands were tested for LGI1 mutations by direct exon sequencing or denaturing high performance liquid chromatography. RESULTS: We identified a novel microdeletion spanning LGI1 exon 2 in a family with two affected members, both presenting focal seizures with visual symptoms. Also, we identified a novel LGI1 missense mutation (c.1118T > C; p.L373S) in a newly ascertained family with focal seizures with prominent visual auras, and another missense mutation (c.856T > C; p.C286R) in a sporadic patient with auditory seizures. CONCLUSIONS: We describe two novel ADLTE families with predominant visual auras segregating pathogenic LGI1 mutations. These findings support the notion that, in addition to auditory symptoms, other types of auras can be found in patients carrying LGI1 mutations. The identification of a novel microdeletion in LGI1, the second so far identified, suggests that LGI1 microrearrangements may not be exceptional.


Assuntos
Epilepsia do Lobo Frontal/genética , Epilepsia do Lobo Frontal/fisiopatologia , Epilepsia do Lobo Temporal/genética , Proteínas/genética , Transtornos do Sono-Vigília/genética , Transtornos do Sono-Vigília/fisiopatologia , Idoso , Encéfalo/patologia , Encéfalo/fisiopatologia , Variações do Número de Cópias de DNA , Epilepsia do Lobo Frontal/patologia , Epilepsia do Lobo Temporal/patologia , Epilepsia do Lobo Temporal/fisiopatologia , Família , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Deleção de Sequência , Transtornos do Sono-Vigília/patologia , Adulto Jovem
12.
Eur J Med Genet ; 56(11): 614-8, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24075935

RESUMO

Various rearrangements occurring in the 15q11-q13 region have been reported in association with epilepsy. Deletions are the most frequent and are associated with Angelman or Prader-Willi syndrome. Duplications feature complex phenotypes including developmental delay, autistic-like behaviour and seizures. Among these, trisomy has been described as a milder phenotype compared to tetrasomy, but reports are rare and the phenotype is not yet defined. Here we report two adult cases with a 15q11.2-13.1 duplication showing a complex and similar epileptic phenotype.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Epilepsia/diagnóstico , Deficiência Intelectual/diagnóstico , Fenótipo , Adulto , Aberrações Cromossômicas , Cromossomos Humanos Par 15/genética , Deficiências do Desenvolvimento/genética , Eletroencefalografia , Epilepsia/genética , Seguimentos , Humanos , Deficiência Intelectual/genética , Masculino , Síndrome
13.
Epilepsy Res Treat ; 2011: 258365, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22937229

RESUMO

Autosomal dominant lateral temporal epilepsy (ADTLE) is an inherited epileptic syndrome characterized by ictal auditory symptoms or aphasia, negative MRI findings, and relatively benign evolution. Mutations responsible for ADLTE have been found in the LGI1 gene. The functions of the Lgi1 protein apparently are mediated by interactions with members of the ADAM protein family: it binds the postsynaptic receptor ADAM22 to regulate glutamate-AMPA currents at excitatory synapses and also the ADAM23 receptor to promote neurite outgrowth in vitro and dendritic arborization in vivo. Because alteration of each of these neuronal mechanisms may underlie ADLTE, ADAM22 and ADAM23 are candidate genes for this syndrome. In a previous work, we excluded a major role of ADAM22 in the aetiology of ADLTE. Here, we performed linkage analysis between microsatellite markers within or flanking the ADAM23 gene and ADLTE in 13 Italian families. The results exclude ADAM23 as major causative gene for ADLTE.

14.
Brain Dev ; 32(3): 248-52, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19216040

RESUMO

We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p12-p15.4. Duplications of 11p are rare and usually involve the distal part of the chromosome arm (11p15), being not associated with epilepsy, whereas our patient showed a unique epileptic phenotype associated with mental retardation and dysmorphic features. The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed.


Assuntos
Transtornos Dismórficos Corporais/complicações , Cromossomos Humanos Par 11/genética , Epilepsia , Deficiência Intelectual/complicações , Duplicações Segmentares Genômicas/genética , Transtornos Dismórficos Corporais/genética , Epilepsia/complicações , Epilepsia/tratamento farmacológico , Epilepsia/genética , Humanos , Deficiência Intelectual/genética , Masculino , Adulto Jovem
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