Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain

Andrade, Danielle M.

doi:10.1007/s00439-009-0702-1

Cited by 58 publications

(50 citation statements)

References 210 publications

(196 reference statements)

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“…PH is a genetically and phenotypically heterogeneous disorder. 1,2 The most commonly identified genetic cause, representing fewer than half of all PH cases, is a mutation in the X-linked gene FLNA (XL-PH; OMIM #300049). The substantial majority of individuals with FLNA-related PH are females since hemizygosity for null mutations characteristically leads to male embryonic lethality.…”

Section: Introductionmentioning

confidence: 99%

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

et al. 2012

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Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in FLNA that manifest a wide spectrum of connective tissue and vascular anomalies. The spectrum of cutaneous defects was broader than previously described and is inconsistent with a specific type of EDS. We also extend the range of vascular anomalies associated with XL-PH to included peripheral arterial dilatation and atresia. Based on these observations, we suggest that there is little molecular or clinical justification for considering EDS-PH as a separate entity from XL-PH, but instead propose that there is a spectrum of vascular and connective tissues anomalies associated with this condition for which all individuals with loss-of-function mutations in FLNA should be evaluated. In addition, since some patients with XL-PH can present primarily with a joint hypermobility syndrome, we propose that screening for cardiovascular manifestations should be offered to those patients when there are associated seizures or an X-linked pattern of inheritance.

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Section: Introductionmentioning

confidence: 99%

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

et al. 2012

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“…The main clinical manifestations of MCDs are epilepsy and / or intellectual disability. Seizures are the most common clinical feature and it was estimated that at least 75% of patients with MCDs will have epilepsy (7), however, motor and cognitive dysfunctions are also very common (9). Most of the MCDs contain areas of the cortex that are intrinsically epileptogenic (9).…”

Section: Malformations Of Cortical Developmentmentioning

confidence: 99%

Epileptogenic malformations of cortical development: when evolution goes awry

Tumienė¹,

Utkus²

2014

AML

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Background. Since the time of its origin in a mammalian ancestor, perhaps 250 million years ago, the neocortex has undergone expansion in both relative and absolute size. The complexity of the brain in vertebrates is proportional to the elaboration of the mechanisms controlling cortical development. Malformations of cortical development (MCD) are classified into three major groups that recapitulate the main developmental steps: cell proliferation, neuronal migration, or postmigrational cortical organization and connectivity. The main clinical manifestations of MCDs are epilepsy and / or intellectual disability. Seizures are the most common clinical feature, at least 75% of patients with MCDs will have epilepsy. Recent advances in neuroimaging techniques and revolutionary achievements in molecular biology led to an explosive increase in our knowledge of cerebral cortex development and malformations of cortical development (MCD). So far, more than 100 genes were associated with one or more types of MCD. However, the genetic cause still remains unidentified in the majority of cases.Conclusions. Investigations of human malformations of cortical development as of a model of impaired neurodevelopment gave a lot of important insights into normal and abnormal brain development processes and practical benefits to MCD patients and their families. Recent achievements in genetic technologies led to a real explosion in such knowledge and are expected to yield even more additional information in the near future.

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“…Elas diferem de outras anormalidades estruturais por possuirem diferentes graus de excitabilidade cortical e potencial para gerar crises clínicas associadas à disfunção motora e cognitiva. 50 Em alguns tipos de displasia cortical focal, por exemplo, crises relacionadas ao sono parecem refletir a modificação do padrão da atividade epiléptica observada durante o sono. Na displasia tipo II, a atividade interictal durante o sono de ondas lentas está organizada em pequenos surtos pseudoperiódicos e recorrentes de descargas rápidas que podem difundir-se ao longo de áreas não lesionais desencadeando crises.…”

Section: Microestrutura Do Sono E Epilepsiasunclassified

“…57 A heterotopia periventricular, por sua vez, caracteriza-se por massas nodulares de substância cinzenta contendo neurônios e glia com laminação rudimentar e desorganizada. 50,58 Apesar de muitos pacientes apresentarem inteligência normal, ela está associada a epilepsia farmacoresistente em 80 a 90% dos casos. 59 As descargas parecem ser o resultado de interações complexas entre a heterotopia e o neocórtex e estudos utilizando EEG intracranial demonstraram que a substância cinzenta heterotópica é capaz de gerar atividade elétrica usualmente sincronizada mas também independente do córtex adjacente.…”

Section: Microestrutura Do Sono E Epilepsiasunclassified

Avaliação da arquitetura do sono em crianças com epilepsia refratária

Pereira

Kaemmerer

Palmini

et al. 2011

J. epilepsy clin. neurophysiol.

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RESuMOIntrodução: Há um interesse crescente nas relações entre sono e epilepsia incentivado pela compreensão de que existem interações potencialmente relevantes nas duas direções. Embora o papel do sono na hipersincronização e a crescente preocupação na geração de crises sejam bem conhecidos, o grau no qual o sono pode facilitar ou induzir a um fenômeno epileptogênico, nas epilepsias lesionais, permanece indefinido. As epilepsias lesionais parecem apresentar um mecanismo particular de epileptogenicidade e o esclarecimento do papel da macro e microarquitetura do sono pode auxiliar na antecipação e monitorização de fenômenos epilépticos relacionados ao sono, conforme a etiologia da epilepsia. Objetivo: revisar e discutir as relações entre sono e epilepsia na infância e adolescência relacionando as alterações estruturais do sono à etiologia da epilepsia. Métodos: revisão bibliográfica utilizando o banco de dados Medline, abrangendo os estudos publicados nos últimos quinze anos, com as palavras-chave (unitermos) sono e epilepsia. Conclusões: epilepsia refratária durante a infância parece influenciar a organização do sono principalmente naqueles pacientes com etiologia lesional. A definição do tipo de epilepsia pode ser importante na antecipação dos distúrbios de sono nesta população.unitermos: sono, epilepsia, displasia cortical, padrão cíclico alternante. ABSTRACT Evaluation of sleep architecture in children with refractory epilepsyIntroduction: There has been a growing interest in the relations between sleep and epilepsy, kindled by the realization that there are many potentially relevant two-way interactions. Even though the hyper-synchronizing role of sleep and its attending increase in the probability of seizure generation are well known, the degree to which sleep may facilitate or induce epileptogenic phenomena in lesional epilepsies remains unclear. The lesional epilepsies seems to have intrinsic epileptogenic properties and the knowledge about sleep macro and microarchiteture could help clinician to anticipate and monitor sleep-related epileptic phenomena according to the etiology of the epilepsy Objective: Discuss the relationship between sleep and epilepsy in childhood and adolescence. Methods: Literature review in journals indexed through Medline, from the last 15 years. Conclusion: Refractory epilepsy during childhood influences sleep organization mainly in patients with lesional etiology. The definition of the type of epilepsy is important to anticipate sleep disorders in this population.

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Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain

Cited by 58 publications

References 210 publications

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Epileptogenic malformations of cortical development: when evolution goes awry

Avaliação da arquitetura do sono em crianças com epilepsia refratária

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