Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability

2020 ◽  
Vol 182 (11) ◽  
pp. 2765-2772
Author(s):  
Dengchang Wu ◽  
Caihong Ji ◽  
Zhongqin Chen ◽  
Kang Wang
Keyword(s):  
Intellectual Disability ◽  
Female Patient ◽  
Refractory Epilepsy ◽  
Pathogenic Variant

Epidemiology of Epilepsy in Older Adults With an Intellectual Disability in Ireland: Associations and Service Implications

2014 ◽  
Vol 119 (3) ◽  
pp. 253-260 ◽  
Author(s):  
Mary McCarron ◽  
Marie O'Dwyer ◽  
Eilish Burke ◽  
Eimear McGlinchey ◽  
Philip McCallion
Keyword(s):  
Older Adults ◽  
Intellectual Disability ◽  
Longitudinal Study ◽  
Refractory Epilepsy ◽  
Demographic Variables ◽  
Health Conditions ◽  
Community Settings ◽  
Morbid Conditions

Abstract There are limited studies on the prevalence of epilepsy and co-morbid conditions in older adults with an ID. To begin to address this prevalence of epilepsy was estimated for participants in the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing. Associations with demographic variables and co morbid health conditions were examined. It was found that prevalence was high (30.7%); but declined as people aged. Those with epilepsy were less likely to live with family, independently or in community settings, rates of refractory epilepsy were high and, despite medication over half of those with epilepsy still reported experiencing seizures. Given these findings, people with ID and their careers have considerable needs for information about epilepsy management, and for support from specialist ID and epilepsy services.

scholarly journals SHANK3Mutation and Mosaic Turner Syndrome in a Female Patient With Intellectual Disability and Psychiatric Features

2019 ◽  
Vol 31 (3) ◽  
pp. 272-275
Author(s):  
Andrea Accogli ◽  
Richard Yang ◽  
Marie-Eve Blain-Juste ◽  
Nancy Braverman ◽  
Jai Shah ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Turner Syndrome ◽  
Female Patient

scholarly journals Prevalence and incidence of vertebral fractures: a 7-year follow-up study in institutionalized adults with refractory epilepsy and intellectual disability

2020 ◽  
Vol 167 ◽  
pp. 106461
Author(s):  
Jessica Berkvens ◽  
Marian Majoie ◽  
Sandra Mergler ◽  
Kim Beerhorst ◽  
Pauline Verschuure ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Vertebral Fractures ◽  
Refractory Epilepsy ◽  
Follow Up Study

scholarly journals Perampanel and Challenging Behaviour in Intellectual Disability and Epilepsy: A Management Dilemma

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Emily Dolton ◽  
Ansar Choudry
Keyword(s):  
Intellectual Disability ◽  
Antipsychotic Drugs ◽  
Seizure Control ◽  
Refractory Epilepsy ◽  
Challenging Behaviour ◽  
Her Family ◽  
Antiepileptic Medication ◽  
Life Threatening ◽  
Family Home ◽  
Treatment Refractory

We describe a case of a patient with a diagnosis of moderate learning disability with challenging behaviour and treatment refractory epilepsy. Antiepileptics can increase challenging behaviour; however, antipsychotics can provoke seizures. This results in a difficult balance for patient care. Due to worsening seizures, the patient was prescribed perampanel. This increased her aggression and agitation resulting in admission. We trialled four antipsychotic drugs to reduce her challenging behaviour, two of which worsened her seizures. It was necessary to continue antiepileptic medication to maintain adequate seizure control. However, the resulting uncontrolled challenging behaviour persisted, meaning she was unable to return to her family home on discharge. This case emphasises the difficult scenario clinician’s encounter when balancing the use of antipsychotics and antiepileptics. The case demonstrates the significant functional loss due to challenging behaviour, balanced against controlling life threatening seizures.

scholarly journals Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

2020 ◽  
Author(s):  
Talal J. Qazi ◽  
Qiao Wu ◽  
Ailikemu Aierken ◽  
Daru Lu ◽  
Ihtisham Bukhari ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Mutational Analysis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Facial Dysmorphism ◽  
Pakistani Family ◽  
Spermine Synthase ◽  
Whole Exome

Abstract Background: Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS is also characterized by reduced bone density, osteoporosis and facial dysmorphism. SRS phenotypes evolve with age from childhood to adulthood. Methods: Whole exome sequencing was performed to know the causative gene/pathogenic variant. Later we confirmed the pathogenic variant through Sanger sequencing. Furthermore, we also performed the mutational analysis through HOPE SERVER and SWISS-MODEL. Also, radiographs were also obtained for affected individual to confirm the disease features. Results: In this article, we report the first Pakistani family consisting of three patients with SRS and a novel missense pathogenic variant in the SMS gene (c.905 C>T p.(Ser302Leu)). In addition to the typical phenotypes, one patient presented with early-onset seizures. Clinical features, genetic and in-silico analysis linked the affected patients of the family with Snyder-Robinson and suggest that this novel mutation affects the spermine synthase activity Conclusion: A novel missense variant in the SMS, c.905C >T p. (Ser302Leu), causing Snyder- Robinson Syndrome (SRS) is reported in three members of Pakistani Family.

scholarly journals Whole exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

2020 ◽  
Author(s):  
Talal J. Qazi ◽  
Qiao Wu ◽  
Ailikemu Aierken ◽  
Daru Lu ◽  
Ihtisham Bukhari ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Mutational Analysis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Facial Dysmorphism ◽  
Pakistani Family ◽  
Spermine Synthase ◽  
Whole Exome

Abstract Background: Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS is also characterized by reduced bone density, osteoporosis and facial dysmorphism. SRS phenotypes evolve with age from childhood to adulthood. Methods: Whole exome sequencing was performed to know the causative gene/pathogenic variant. Later we confirmed the pathogenic variant through Sanger sequencing. Furthermore, we also performed the mutational analysis through HOPE SERVER and SWISS-MODEL. Also, radiographs were also obtained for affected individual to confirm the disease features. Results: In this article, we report the first Pakistani family consisting of three patients with SRS and a novel missense pathogenic variant in the SMS gene (c.905 C>T p.(Ser302Leu)). In addition to the typical phenotypes, one patient presented with early-onset seizures. Clinical features, genetic and in-silico analysis linked the affected patients of the family with Snyder-Robinson and suggest that this novel mutation affects the spermine synthase activityConclusion: A novel missense variant in the SMS, c.905C >T p. (Ser302Leu), causing Snyder- Robinson Syndrome (SRS) is reported in three members of Pakistani Family.

scholarly journals A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

2019 ◽  
Vol 5 (6) ◽  
pp. a003988 ◽  
Author(s):  
Aritoshi Iida ◽  
Kyoko Takano ◽  
Eri Takeshita ◽  
Chihiro Abe-Hatano ◽  
Shinichi Hirabayashi ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Pathogenic Variant ◽  
Review Of The Literature ◽  
Japanese Family

Lacosamide in patients with intellectual disability and refractory epilepsy

2019 ◽  
Vol 119 (3) ◽  
pp. 423-430 ◽  
Author(s):  
Anika Kleist ◽  
Frank Kerling ◽  
Hajo Hamer ◽  
Martin Winterholler
Keyword(s):  
Intellectual Disability ◽  
Refractory Epilepsy
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