NDLI: Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

Content Provider	Springer Nature : BioMed Central
Author	Staněk, David Laššuthová, Petra Štěrbová, Katalin Vlčková, Markéta Neupauerová, Jana Krůtová, Marcela Seeman, Pavel
Abstract	Background Epilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology. In our study, a custom designed gene panel with 112 genes known to be associated with epilepsies was used. In total, one hundred and fifty-one patients were tested (86 males / 65 females). Results In our cohort, the highest probability for the identification of the cause of the disease was for patients with a seizure onset within the first four weeks of life (61.9% clarification rate) – about two times more than other groups. The level of statistical significance was determined using a chi-square analysis. From 112 genes included in the panel, suspicious and rare variants were found in 53 genes (47.3%). Among the 151 probands included in the study we identified pathogenic variants in 39 patients (25.8%), likely pathogenic variants in three patients (2%), variants of uncertain significance in 40 patients (26.5%) and likely benign variants in 69 patients (45.7%). Conclusion Our report shows the utility of diagnostic genetic testing of severe childhood epilepsies in a large cohort of patients with a diagnostic rate of 25.8%. A gene panel can be considered as a method of choice for the detection of pathogenic variants within patients with unknown origin of early onset severe epilepsy.
Related Links	https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-018-0812-8.pdf
Ending Page	8
Page Count	8
Starting Page	1
File Format	HTM / HTML
ISSN	17501172
DOI	10.1186/s13023-018-0812-8
Journal	Orphanet Journal of Rare Diseases
Issue Number	1
Volume Number	13
Language	English
Publisher	BioMed Central
Publisher Date	2018-05-02
Access Restriction	Open
Subject Keyword	Medicine Public Health Pharmacology Toxicology Human Genetics Epilepsy Epileptic encephalopathy Targeted gene panel testing MPS Phenotype KCNQ2 Medicine/Public Health Pharmacology/Toxicology
Content Type	Text
Resource Type	Article
Subject	Pharmacology (medical) Genetics (clinical)
Journal Impact Factor	3.4/2023
5-Year Journal Impact Factor	3.9/2023

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

De novo variants of IRF2BPL result in developmental epileptic disorder

A Case of Early Infantile Epileptic Encephalopathy Due to KCNQ2 Gene Mutation Presenting With Episodes of Hiccups.

Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

Similar Documents

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

De novo variants of IRF2BPL result in developmental epileptic disorder

A Case of Early Infantile Epileptic Encephalopathy Due to KCNQ2 Gene Mutation Presenting With Episodes of Hiccups.

Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life