Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

ConclusionsEEF1A2 should be considered as a causative gene not only in cases of epileptic encephalopathy but also in children with less severe epilepsy and intellectual disability. The emergence of a possible discernible phenotype, a broad nasal bridge, tented upper lip, everted lower lip and downturned corners of the mouth may help in identifying patients with mutations in EEF1A2. Exome sequencing has led to the discovery of mutations in novel causative genes for epilepsy. One such gene is EEF1A2, which has been found to be mutated de novo in five cases of severe epilepsy. We now report on a further seven cases, each with a different mutation; in one case the disorder is much less severe than in previously described individuals.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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Early-infantile encephalopathies with epilepsy are devastating conditions mandating an accurate diagnosis to guide proper management. Whole-exome sequencing was used to investigate the disease etiology in four children from independent families with intellectual disability and epilepsy, revealing bi-allelic GOT2 mutations. In-depth metabolic studies in individual 1 showed low plasma serine, hypercitrullinemia, hyperlactatemia, and hyperammonemia. The epilepsy was serine and pyridoxine responsive.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
ConclusionOur results indicate thatCNKSR2 nonsense variants in the C ‐terminal coding part can result in ID with seizures in female variant carriers.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
This article is part of the Special Issue "Proceedings of the 7th London-Innsbruck Colloquium on Status Epilepticus and Acute Seizures"
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
CONCLUSIONS: In 2014, there were 28,212,820 (2.02% AIS and 5.50% LDs) hospitalizations. LDs patients had higher prevalence and odds of having AIS compared with non-LDs. Between 2003-2014, of the total 4,224,924 AIS hospitalizations, 451,645 (10.69%) had LDs. Patients with LDs had lower percentages and odds of mortality, risk of death, major/extreme disability, discharge to nursing facility, and complications including epilepsy, stroke-associated pneumonia, GI-bleeding and hemorrhagic-transformation compared to non-LDs. Although LDs are risk factors for AIS, concurrent LDs in AIS is not only associated with lower mortality ...
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Tags: Medicina (Kaunas) Source Type: research
We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition. PMID: 31410782 [PubMed - as supplied by publisher]
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition.
Source: The Cerebellum - Category: Neurology Source Type: research
We present male (N = 2) and female (N = 3) probands ascertained via diagnostic exome sequencing with distinct variant types in the IQSEC2 gene encompassing a spectrum of phenotypic severity with patient sex, variant type and inheritance hypothesized to drive disease penetrance and expressivity. All of these patients demonstrated epilepsy, global developmental delays, intellectual disability, and constipation. Our data support that de novo, truncating variants correlate with severe disease in both female and male patients harboring an IQSEC2 alteration. Missense variants in male and female patients may account for a...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Surgical treatment for drug-resistant epilepsy remains underused in the industrialized world; it is estimated that, in the United States, less than 1% of patients with drug-resistant epilepsy, defined as failure of 2 appropriate trials of antiseizure drugs,1 are referred to an epilepsy center.2 Furthermore, when patients are referred, the delay from onset of epilepsy is 18–22 years,2,3 often too late to prevent irreversible social and psychological disabilities.
Source: Neurology Clinical Practice - Category: Neurology Authors: Tags: Editorial Source Type: research
ConclusionClinical work ‐up of an individual with developmental delay, hyperactivity, anxiety, and an uncharacteristically happy demeanor should prompt methylation studies to rule out mAS. We expand the phenotypic spectrum of AS to include features that overlap with Prader‐Willi such as hyperphagia.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
ConclusionsA broad spectrum of neurologic and neurodevelopmental features are found with pathogenic variants ofSYNGAP1. An abnormal posterior dominant rhythm on EEG correlated with abnormal developmental progression, providing a possible prognostic biomarker.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
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