Pediatric epilepsies : from genetic testing to targeted disease management / Pasquale Striano.

Format:

Video

Author/Creator:

Striano, Pasquale, author.

Language:

English

Subjects (All):

Epilepsy.

Human chromosome abnormalities--Diagnosis.

Human chromosome abnormalities.

Physical Description:

1 online resource (1 streaming video file (33 min.))

Other Title:

Pediatric epilepsies

Place of Publication:

London : Henry Stewart Talks, 2025.

System Details:

video file

Contents:

Introduction

Disclosures

Research has redefined the cause of many epilepsies as genetic

NGS technology increases the discovery of novel genetic aetiologies dramatically

Genetic testing tools

Importance of physical examination

Recent advances in epilepsy genetics

The genetic landscape of the epileptic encephalopathies

Dissecting epilepsy pathophysiology

Voltage-gated sodium channel encephalopathies

Dravet syndrome (DS)

DS clinical manifestations

The effects of the SCN1A (R1407X) mutation on GABAergic and pyramidal neurons

The MONARCH and ADMIRAL trials

ETX101 is a potential one-time gene regulation therapy for SCN1A+ DS

Clinical case

Standard of care of Glut1 deficiency syndrome (DS)

Examples of potential therapeutic approaches

Lessons from genetic epilepsies

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci

Management of genetic epilepsies: from empirical treatment to precision medicine

Drug metabolizing enzymes

Plasma drug concentrations in different patients after receiving the same doses of a drug

The foundation of pharmacogenomics: differences in the genetic code between people

Personalized drug selection suggestions based on pharmacogenomic data

Stevens-Johnson syndrome

CFHR4 variant

Factors contributing to variability in drug response

Summary.

Notes:

Description based on publisher supplied metadata and other sources.

Retrieved August 24, 2025, from https://doi.org/10.69645/ZRUI4897.