Polyalanine expansion of
            <i>ARX</i>
            associated with cryptogenic West syndrome

Kato, Mitsuhiro; Das, Soma; Petras, Kristin; Sawaishi, Yukio; Dobyns, William B.

doi:10.1212/01.wnl.0000068012.69928.92

Cited by 90 publications

(49 citation statements)

References 6 publications

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“…Based on our observation and the data published by Strømme et al [6,7] and Kato et al [1], we conclude that ARX mutations should be taken into consideration in boys with otherwise unexplained West syndrome. Fig.…”

supporting

confidence: 78%

“…The mutation found in our Swiss family, which is not related to previously reported families, has been described before in boys with infantile spasms and normal MRI, severe mental and motor retardation [7]. In addition to Partington syndrome, dystonia was described in a few unpublished Australian and Norwegian cases [6], but other ARX mutations can result in a similar phenotype [1,3]. Present observations suggest some genotypephenotype correlation: The more severe inactivating mutations such as early truncation mutations or missense mutations in the evolutionary conserved domains cause the more severe phenotype of XLAG.…”

supporting

confidence: 64%

See 1 more Smart Citation

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

Wohlrab

Uyanık

Groß³

et al. 2005

Eur J Pediatr

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supporting

confidence: 78%

supporting

confidence: 64%

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

Wohlrab

Uyanık

Groß³

et al. 2005

Eur J Pediatr

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“…These deletions, c.431_454del [14], c.448_456del and c.429_452del [5] were suggested to represent rare, benign, DNA variations, a conclusion based on finding c.429_452del also in a healthy male relative [5]. It is tempting to speculate that these alterations might be a consequence of the same event, which gives rise to the duplication mutation [16]. Alternatively, DNA replication-or DNA repair-based mechanisms similar to those proposed for dynamic mutations might be involved [17].…”

Section: Arx Mutationsmentioning

confidence: 99%

ARX: a gene for all seasons

Gécz

Cloosterman

Partington

2006

Current Opinion in Genetics & Development

127

122

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“…It has been linked with different early-life epilepsies, including Ohtahara syndrome and WS. The reports of patients with IS include both infants with no identifiable structural brain abnormality (which would have otherwise been classified as unknown etiology) and infants with pronounced abnormalities, such as X-linked lissencephaly with abnormal genitalia (XLAG) (Dobyns et al 1999;Scheffer et al 2002;Stromme et al 2002;Kato et al 2003Kato et al , 2007Kato 2006;Paciorkowski et al 2011a).…”

Section: Aristaless-related Homeobox X-linked Genetic Mouse Models (Cmentioning

confidence: 99%

Neonatal and Infantile Epilepsy: Acquired and Genetic Models

Galanopoulou

Moshé

2015

Cold Spring Harb Perspect Med

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The incidence of seizures and epilepsies is particularly high during the neonatal and infantile periods. We will review selected animal models of early-life epileptic encephalopathies that have addressed the dyscognitive features of frequent interictal spikes, the pathogenesis and treatments of infantile spasms (IS) or Dravet syndrome, disorders with mammalian target of rapamycin (mTOR) dysregulation, and selected early-life epilepsies with genetic defects. Potentially pathogenic mechanisms in these conditions include interneuronopathies in IS or Dravet syndrome and mTOR dysregulation in brain malformations, tuberous sclerosis, and related genetic disorders, or IS of acquired etiology. These models start to generate the first therapeutic drugs, which have been specifically developed in immature animals. However, there are challenges in translating preclinical discoveries into clinically relevant findings. The advances made so far hold promise that the new insights may potentially have curative or disease-modifying potential for many of these devastating conditions. T he neonatal and infantile periods show relatively high age-adjusted incidence of epilepsy compared with other ages of life (Hauser et al. 1993). The etiology of newly diagnosed epilepsies at these ages also is distinct, showing greater representation of epilepsies of unknown, genetic, or congenital etiologies (Hauser et al. 1993). The semiology and syndromic phenotypes of epilepsies that first appear in this early life period are also distinct and often more fulminant, appearing with evident neurodevelopmental problems or regression (e.g., epileptic encephalopathies) or characteristic seizure types (e.g., infantile spasms [IS], multifocal clonic seizures) ( Table 1). In addition, the treatments for epilepsies of these age groups can be specialized, as is the case with the use of hormonal therapies (e.g., adrenocorticotropic hormone [ACTH] in certain epileptic encephalopathies). Given the serious repercussions for the development of these neonates and infants and the importance of finding better therapies with disease-modifying potential, several efforts have been made to create animal models of these conditions to increase our understanding and ability to treat them. Here, we will review selected animal models, genetic or induced, that address epilepsies and epileptic encephalopathies characteristic of neonates and infants.

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Polyalanine expansion of ARX associated with cryptogenic West syndrome

Cited by 90 publications

References 6 publications

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

ARX: a gene for all seasons

Neonatal and Infantile Epilepsy: Acquired and Genetic Models

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