Epilepsy2019-01-14T10:36:58+01:00

Epilepsy

The genetic diagnosis of epilepsy is complex. In recent years, causal genetic alterations have been identified in a significant and growing number of cases.

NIMGenetics offers a global solution to the study of the etiopathogenesis of epilepsy, isolated or associated with other neurological and/or neurometabolic disorders: NIMNet® Epilepsy.

The neuropediatric patient who presents with neurodevelopmental disorders and/or congenital alterations frequently suffers from concurrent epileptic seizures. For these patients, NIMGenetics recommends a comprehensive approach: NIMIntegra® Neuropediatrics.

KaryoNIM® Postnatal 180k Autism

Array CGH designed specifically for the study of autistic spectrum disorder (ASD). Based on KaryoNIM Postnatal 180k, this design is aimed at the study of neurodevelopmental disorders and polymalformative syndromes, with a potent increase in detection capacity (15 kb) in 140 genes associated with ASD.

Analyzes with high resolution 308 OMIM syndromes and other genetic regions responsible for various pathologies. with an average resolution of 75 kb in these regions. It offers a minimum resolution of 75 kb in syndromic regions, which increases to 40 kb in those genes associated with polymalformative syndromes and 15 kb in genes linked to ASD.

KaryoNIM® Postnatal 180k Autism is part of the comprehensive approach that NIMGenetics has developed for the genetic diagnosis of neurodevelopmental disorders and epilepsy: NIMIntegra Neuropediatrics 

Reference: CGH1005
Delivery of results: 20 working days from receipt of the sample.

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ExoNIM® Epilepsy Plus

A global approach for the study of the different clinical forms of epilepsy that analyzes 223 genes with clinical relevance based on the sequencing of the complete exome (ExoNIM®).

The sequence obtained is stored, which allows the application of different analyses simultaneously or sequentially, which can be requested in different ways:

  • Targeted Study of the genes associated with a defined epileptic syndrome. Access our designs for ExoNIM® Targeted to epilepsy.
  • Address complex pathologies through the combined analysis of different designs of ExoNIM® Targeted according to the signs and symptoms of the patient. This diagnostic strategy allows combining the genes associated with epilepsy with those associated with disorders such as ASD, intellectual disability, or mitochondrial diseases, among others.
  • Any of the studies based on exonic sequencing can be expanded, through:
    • The inclusion of genes described after the analysis.
    • The performance of ExoNIM Clinical or ExoNIM Trio.

ExoNIM Epilepsy Plus is part of our global solution to the study of the etiopathogenesis of epilepsy: NIMNET® Epilepsy

 
Reference: EXN5001
Delivery of results: 60 working days after receipt of sample.

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ExoNIM® Targeted to Epilepsy

A genetic approach for the study of epilepsy based on ExoNIM®, our complete exome sequencing platform. Once the 19,000 genes of the patient are sequenced, those associated with the epileptic phenotype of interest are analyzed using ExoNIM® Targeted to epilepsy.

The platforms of NIMGenetics directed to the study of epilepsy have the following advantages:

  • Address complex pathologies through the combined analysis of different designs of ExoNIM® Targeted according to the signs and symptoms of the patient. This diagnostic strategy allows combining the genes associated with epilepsy with those associated with disorders such as ASD, intellectual disability, or mitochondrial diseases.
  • Any of the studies based on exonic sequencing can be expanded, through:
    • The inclusion of genes described after the analysis.
    • The realization of ExoNIM Clinical or ExoNIM Trio.

When is it indicated?

  • Molecular confirmation of a clinical diagnosis of a defined epileptic syndrome.
  • Optimization of the treatment and clinical management of the patient with epilepsy.
  • Identification of families carrying mutations associated with an epileptic phenotype.

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Other Molecular Techniques

NIMGenetics offers genetic study services based on different molecular biology platforms, among which are MLPA (Multiplex ligation-dependent probe amplification) and TRP-PCR for the study of triplet expansions. In addition, we make available to the specialist the detection of genetic alterations in mitochondrial DNA, through the application of mass sequencing techniques and MLPA.

Go to the Genetic Studies Search

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