Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms—A further patient

Allen, Nicholas M.; Conroy, Judith; Shahwan, Amre; Ennis, Sean; Lynch, Bryan; Lynch, Sally Ann; King, Mary D.

doi:10.1002/ajmg.a.36532

Cited by 3 publications

(1 citation statement)

References 8 publications

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“…Remarkably both children had similar treatment responses and favourable developmental outcome, and this presentation may represent a phenotype which responds well to treatment, although further reports are necessary to support such findings. 6,7 Within the affected chromosomal region of 15q13.3 deletion, CHRNA7 encoding a cholinergic receptor, is the primary candidate epilepsy gene. 5 Deletions of 16p13.11 have been associated with genetic generalised epilepsy (GGE/formerly 'idiopathic generalised epilepsy') often with intellectual or psychiatric disturbance.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort

Allen

Conroy

Shahwan

et al. 2015

European Journal of Paediatric Neurology

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Section: Discussionmentioning

confidence: 99%

Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort

Allen

Conroy

Shahwan

et al. 2015

European Journal of Paediatric Neurology

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The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome

Whitney

Nair

McCready

et al. 2021

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First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

et al. 2019

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15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, we characterized these deletions and their approximate breakpoints. The second deletion in both patients overlaps in a small area containing CHRNA7 where the gene is partially deleted. The CHRNA7 is considered a strong candidate for the 15q13.3 deletion syndrome’s pathogenicity. Patient 1 has cognitive impairment, learning disabilities, hyperactivity and subtle dysmorphic features whereas patient 2 has mild language impairment with speech difficulty, mild dysmorphia, heart defect and interestingly a high IQ that has not been reported in 15q13.3 syndrome patients before. Our study presents first report of such two successive deletions in 15q13.3 syndrome patients and a high IQ in a 15q13.3 syndrome patient. Our study expands the breakpoints and phenotypic features related to 15q13.3 syndrome.

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Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms—A further patient

Cited by 3 publications

References 8 publications

Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort

Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort

The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

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