Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics

Chang, Yu-Tzu; Hong, Syuan-Yu; Lin, Wei‐De; Lin, Chien‐Heng; Lin, Sheng-Shing; Tsai, Fuu‐Jen; Chou, I-Ching

doi:10.3390/children10030556

Cited by 8 publications

(4 citation statements)

References 100 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The EEG may be utilized to predict risk of occurrence of seizures as well by detecting interictal discharges or demonstrating seizure onset if seizures are captured [1,18]. Genetic testing with chromosome microarray, epilepsy gene panels, or next generation sequencing testing, and metabolic testing can also be considered [19,20].…”

Section: Diagnostic Workup After Suspected First Unprovoked Seizurementioning

confidence: 99%

“…For this reason, early onset seizures with associated developmental delay, dysmorphism, or consanguinity history suggests that genetic testing is high yield. Available genetic testing for patients with suspected genetic epilepsies include chromosome microarray (CMA) and next generation sequencing (NGS) testing such as genetic panels, whole exome sequencing (WES), and whole genome sequencing (WGS) [19,20]. Of these tests, NGS testing while more expensive remains higher yield than CMA with the cost per diagnosis favoring NGS testing over CMA [20].…”

Section: Diagnosis and Treatment Of Drug Resistant Epilepsymentioning

confidence: 99%

See 1 more Smart Citation

Childhood Epilepsies and When to Refer for Epilepsy Surgery Evaluation

Miller

2024

Common Childhood Diseases - Diagnosis, Prevention and Management

View full text Add to dashboard Cite

Many providers feel uncomfortable with the recognition of epileptic seizures, the diagnosis and classification of epilepsy syndromes, and initial treatments to offer to patients with epilepsy. Available therapies for children with epilepsy include medical management with antiseizure medications, trial of the ketogenic diet, and evaluation for epilepsy surgeries. This chapter will highlight the diagnostic criteria for epilepsy, common epilepsy syndromes according to the recent updated International League Against Epilepsy (ILAE) Classification, and when to refer to an epilepsy center for specialized treatments if not readily available such as the ketogenic diet, phase 1 presurgical evaluation, and epilepsy surgery. This chapter will also briefly highlight frequent comorbidities with epilepsy such as psychogenic nonepileptic seizures and attention deficit hyperactivity disorder and the challenges related to seizure mimics. This chapter will therefore highlight the diagnosis, workup, and management of both medically responsive epilepsy and drug resistant epilepsy (DRE) as well as its comorbidities. This chapter is a comprehensive review of the literature for the diagnosis and treatment of epilepsy and the author’s experience of practice working at Riley Hospital for Children at Indiana University Health which is a National Association of Epilepsy Centers (NAEC) Level 4 Epilepsy Center.

show abstract

Section: Diagnostic Workup After Suspected First Unprovoked Seizurementioning

confidence: 99%

Section: Diagnosis and Treatment Of Drug Resistant Epilepsymentioning

confidence: 99%

Childhood Epilepsies and When to Refer for Epilepsy Surgery Evaluation

Miller

2024

Common Childhood Diseases - Diagnosis, Prevention and Management

View full text Add to dashboard Cite

show abstract

“…This can help to select the most appropriate and effective treatment for each patient, based on their genotype and phenotype. Gene therapy can also offer a promising strategy to correct genetic defects or modify the gene expression that underlies epilepsy or viral infections and to restore the normal function of the brain or the immune system [294,295]. For example, a case report of a neonate with NPRL3-related epilepsy reported 3.5 months of seizure control that allowed the patient to grow seizure-free until epilepsy surgery [296].…”

Section: Future Directions and Precision Therapiesmentioning

confidence: 99%

Virus-Induced Epilepsy vs. Epilepsy Patients Acquiring Viral Infection: Unravelling the Complex Relationship for Precision Treatment

Costa,

Vale

2024

IJMS

View full text Add to dashboard Cite

The intricate relationship between viruses and epilepsy involves a bidirectional interaction. Certain viruses can induce epilepsy by infecting the brain, leading to inflammation, damage, or abnormal electrical activity. Conversely, epilepsy patients may be more susceptible to viral infections due to factors, such as compromised immune systems, anticonvulsant drugs, or surgical interventions. Neuroinflammation, a common factor in both scenarios, exhibits onset, duration, intensity, and consequence variations. It can modulate epileptogenesis, increase seizure susceptibility, and impact anticonvulsant drug pharmacokinetics, immune system function, and brain physiology. Viral infections significantly impact the clinical management of epilepsy patients, necessitating a multidisciplinary approach encompassing diagnosis, prevention, and treatment of both conditions. We delved into the dual dynamics of viruses inducing epilepsy and epilepsy patients acquiring viruses, examining the unique features of each case. For virus-induced epilepsy, we specify virus types, elucidate mechanisms of epilepsy induction, emphasize neuroinflammation’s impact, and analyze its effects on anticonvulsant drug pharmacokinetics. Conversely, in epilepsy patients acquiring viruses, we detail the acquired virus, its interaction with existing epilepsy, neuroinflammation effects, and changes in anticonvulsant drug pharmacokinetics. Understanding this interplay advances precision therapies for epilepsy during viral infections, providing mechanistic insights, identifying biomarkers and therapeutic targets, and supporting optimized dosing regimens. However, further studies are crucial to validate tools, discover new biomarkers and therapeutic targets, and evaluate targeted therapy safety and efficacy in diverse epilepsy and viral infection scenarios.

show abstract

“…У разі застосування методу NGS імовірні генетичні причини, переважно у формі моногенних розладів, виявляються у 18-48% дітей раннього віку з епілептичними нападами, при цьому цей показник вищий у дітей з фармакорезистентними нападами. На сьогодні перелік моногенних порушень, які можуть викликати розвиток ЕЕ та РЕ, включає понад 100 різних генів і продовжує щорічно поповнюватися [3,18].…”

Section: оригінальні дослідженняunclassified

Prenatal, perinatal and neonatal birth risk factors of children with epileptic encephalopathies

Miroshnykov

2023

UJPP

View full text Add to dashboard Cite

The negative impact of perinatal factors on the brain can play a significant role in the etiopathogenesis of epileptic seizures in young children and the development of epileptic encephalopathies (EE). Purpose - to study the characteristics of the course of the prenatal and neonatal periods in young children with EE for the further formation of risk groups of children who need active monitoring. Materials and methods. An analysis of prenatal and neonatal features of anamnesis of 157 children with EE and their mothers was carried out. The children were divided into 3 groups: the Group I - children with EE who had the debut of epileptic seizures before the age of 1 year (n=75); the Group II - children with EE who had the debut of epileptic seizures after the age of 1 year (n=44); the Group III - children with epileptiform and developmental encephalopathies (EDE) (n=38). Results. The course of pregnancy in mothers of children with EDE is characterized by a high frequency of early gestosis, the threat of abortion in the second half of pregnancy and polyhydramnios (28.9%, 31.6%, 23.7%, respectively). Some (31.6%) of children with EDE were born prematurely, 21.1% by emergency caesarean section. Childbirth in mothers of children with EDE was characterised by a pathological course (44.7%), weakness of labor activity and prolonged dehydration (36.8% and 28.9%, respectively), and the birth of a child with distress (21.1%). The course of the neonatal period in children with EDE was characterized by a higher frequency of hypoxic-ischemic encephalopathy (23.7%) than in children with other forms of EE. In children of the Group I, syndromes of motor disorders (20.0%) and muscle hypotonia (17.3%) were more often observed. Conclusions. Aggravating factors of obstetric-gynecological and somatic anamnesis in women, and the course of prenatal and neonatal periods of life, which can act as a basis for the formation of EE and EDE in children, have been established. Among them are preeclampsia, placental pathology, changes in the amount of amniotic fluid during pregnancy, pathological childbirth, central nervous system depression syndrome and convulsive syndrome in infants. The obtained data will contribute to the formation of high-risk groups of children who need active monitoring. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

show abstract

Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics

Cited by 8 publications

References 100 publications

Childhood Epilepsies and When to Refer for Epilepsy Surgery Evaluation

Childhood Epilepsies and When to Refer for Epilepsy Surgery Evaluation

Virus-Induced Epilepsy vs. Epilepsy Patients Acquiring Viral Infection: Unravelling the Complex Relationship for Precision Treatment

Prenatal, perinatal and neonatal birth risk factors of children with epileptic encephalopathies

Contact Info

Product

Resources

About