A Family With Emotionally Precipitateed “Drop Seizures”

Kirstein, Lennart; Silfverskiöld, B. P.

doi:10.1111/j.1600-0447.1958.tb03533.x

Cited by 90 publications

(47 citation statements)

References 3 publications

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“…In most large families, all patients hi form.i,,5'u,14,1P',2' s However, in four families and the minor forms occurred. In these jor was passed on as the minor m ma-'>, [8][9][10][11] It is important to realize that only one or two patients had the major form of hyperekplexia in these families. occurrence ekplexia are caused by a single gene defect, one might sug gest alternatively that apart from the major hyperekplexia gene, on the chromosome 5q, another gene elsewhere in the genome is responsible for the minor form of hyperekplexia.…”

Section: Commentmentioning

confidence: 99%

Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family

Tijssen¹,

Shiang²,

Deutekom³

et al. 1995

Archives of Neurology

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Section: Commentmentioning

confidence: 99%

Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family

Tijssen¹,

Shiang²,

Deutekom³

et al. 1995

Archives of Neurology

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“…32 These symptoms show overlapping phenotype to the AS, creating a possibility that the cause of some of the AS phenotype, such as seizure, might be associated with lack of Glra1 expression. The reason why Gabra5 is downregulated in Ube3a-deficient mouse is unclear.…”

Section: Qrt-pcr Ube3a Overexpressionmentioning

confidence: 99%

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation

Low

Chen

2010

Eur J Hum Genet

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Angelman syndrome (AS) is a human neurological disorder caused by lack of maternal UBE3A expression in the brain. UBE3A is known to function as both an ubiquitin-protein ligase (E3) and a coactivator for steroid receptors. Many ubiquitin targets, as well as interacting partners, of UBE3A have been identified. However, the pathogenesis of AS, and how deficiency of maternal UBE3A can upset cellular homeostasis, remains vague. In this study, we performed a genome-wide microarray analysis on the maternal Ube3a-deficient (Ube3a mÀ/p+ ) AS mouse to search for genes affected in the absence of Ube3a. We observed 64 differentially expressed transcripts (7 upregulated and 57 downregulated) showing more than 1.5-fold differences in expression (Po0.05). Pathway analysis shows that these genes are implicated in three major networks associated with cell signaling, nervous system development and cell death. Using quantitative reverse-transcription PCR, we validated the differential expression of genes (Fgf7, Glra1, Mc1r, Nr4a2, Slc5a7 and Epha6) that show functional relevance to AS phenotype. We also show that the protein level of melanocortin 1 receptor (Mc1r) and nuclear receptor subfamily 4, group A, member 2 (Nr4a2) in the AS mice cerebellum is decreased relative to that of the wild-type mice. Consistent with this finding, expression of small-interfering RNA that targets Ube3a in P19 cells caused downregulation of Mc1r and Nr4a2, whereas overexpression of Ube3a results in the upregulation of Mc1r and Nr4a2. These observation help in providing insights into the genesis of neurodevelopmental phenotype of AS and highlight specific area for future research.

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“…Temel patoloji, beyindeki inhibitor glisin reseptörlerinin olgunlaşmasının tamamlanamamasıdır. Hiperekpleksia insanlarda bir nörotransmitter geninde mutasyon gösterilmiş ilk hastalıktır (5) . Otozomal dominant ya da resesif olarak geçiş gösteren genetik bir altyapısı mevcuttur (6) .…”

Section: Discussionunclassified

Neonatal Hyperekplexia: A Case Report

Çalışıcı¹,

Ograg²,

Karagöl³

2016

Buch

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ÖZHiperekpleksia, işitsel, dokunsal veya görsel ani dış uyaranlara karşı belirgin irkilme yanıtı ve hipertoni ile karakterize ender görülen epileptik olmayan paroksismal bir erkek yenidoğan bozukluktur. Fizik muayenede buruna ya da alına uygulanan dokunma uyarısına hastanın verdiği irkilme yanıtının görülmesi tanı için önemlidir. Bu makalede hastanemizde doğan, anne yanı izlemi sırasında konvülsiyon öntanısı ile yenidoğan ünitemize yatırılan ve izleminde de hiperekpleksia tanısı konulan bir yenidoğan olgu sunulmakta ve konvülsiyon ayırıcı tanısında neonatal hiperekpleksianın akılda tutulması gerektiğine dikkat çekilmektedir.Anahtar kelimeler: Hiperekpleksia, konvülsiyon, yenidoğan ABSTRACT Hyperekplexia is a rare nonepileptic paroxysmal disorder characterized by an exaggerated startle reaction and hypertonia to unexpected auditory, somatosensory and visual stimuli. Diagnosis is based on the evocation of startle reflex in response to tapping on nose or forehead during physical examination. We report a male newborn infant, born in our hospital and hospitalized in our neonatal unit with the initial diagnosis of convulsion during mothercare follow-up and diagnosed as hyperekplexia during his monitorization. This case emphasizes that neonatal hyperekplexia should be kept in mind in the differential diagnosis of convulsions.

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A Family With Emotionally Precipitateed “Drop Seizures”

Cited by 90 publications

References 3 publications

Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family

Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation

Neonatal Hyperekplexia: A Case Report

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