SCN2A mutations are some of the commonest causes of neurodevelopmental disorders including epilepsy, movement disorders, autism spectrum disorder, intellectual disability and rarely episodic ataxia.
...We present a patient with a dominantly inherited SCN2A mutation presenting as episodic ataxia in a boy and episodic hemiplegia in his father. We have briefly reviewed the literature of SCN2A mutations presenting with episodic ataxia.
Our report has expanded the phenotype for SCN2A mutations.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Purpose: Children with epilepsy commonly have cognitive deficits; however, full-length neuropsy-chological testing is time- and resource-intensive. Therefore, we evaluated the feasibility of using ...the modified Mini-Mental Scale Examination (MMSE) and the Digit Letter Substitution Test (DLST) to screen children with epilepsy for cognitive deficits.Methods: This was a prospective case-control study comparing scores on the MMSE and the DLST in children with epilepsy with normal age-matched controls between 8 and 12 years of age. Results: In 35 cases and 36 controls, the cases had significantly lower (P<0.05) mean scores than the controls. The correlation coefficient between the MMSE and DLST scores was 0.902 (P<0.001). Children with developmental or speech delays and an epilepsy duration ≥5 years had lower scores than those without the corresponding risk factors.Conclusion: This study demonstrated significantly lower scores on the MMSE and DLST in chil-dren with epilepsy than in controls, as well as significantly lower scores in patients with develop-mental or speech delays and an epilepsy duration ≥5 years.
The role of the CTC1–STN1–TEN1 (CST) complex in Coats plus syndrome (CP), as well as other telomeropathy‐phenotypes and disorders of genome instability is well documented. We report an Indian child ...with a clinical diagnosis of CP who presented to us with retinal exudates, extensive cerebral calcification, developmental delay and severe anemia consequent upon chronic gastrointestinal (GI) bleeding. Whole exome sequencing revealed compound heterozygous variants in STN1 as the probable genetic cause leading to CP in the present case. Of the two variants, the nonsense variant c.397C>T (p.Arg133*) was a truncating variant leading to loss of full protein length whereas the second variant c.985G>C (p.Ala329Pro) was novel and neither reported in ExAC, 1KGP or gnomAD. The deleteriousness of the novel variant was explored through molecular dynamics simulation analysis where p.Ala329Pro mutation affected C‐terminal domain interaction between STN1 and TEN1 complex. Hormonal therapy using ethinyl estradiol and norethisterone was apparently associated with a clinically useful, although poorly sustained, decrease in blood transfusion requirement in the proband.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
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