Uncommon epileptic syndromes in children: a review

Josefina de la Jara1, Carla Vásquez-Hernández1, Elías Ramírez-Rojo1

  • 1Neurology Unit, Dr. Luis Calvo Mackenna Children's Hospital; East Department of Pediatrics and Pediatric Surgery, Faculty of Medicine, University of Chile.

Seizure
|May 23, 2021
PubMed

Insights

This review clarifies epileptic syndromes, focusing on seven uncommon types. Recognizing these rare childhood epilepsy syndromes aids pediatric neurologists in diagnosis and treatment.

Area of Science:

  • Pediatric Neurology
  • Epileptology

Background:

  • Epileptic syndromes are defined by clinical and electroencephalographic features, but etiology and prognosis vary.
  • Recognition is crucial for pediatric neurology, yet many syndromes remain unfamiliar due to low incidence and limited literature.
  • This review addresses the concept of epileptic syndromes and highlights seven less common types.

Purpose of the Study:

  • To elucidate the concept of epileptic syndromes.
  • To summarize the core clinical features of seven uncommon epileptic syndromes.
  • To provide practical diagnostic clues for neurologists in daily practice.

Main Methods:

  • Narrative review of the literature.
  • Focus on defining characteristics of selected epileptic syndromes.
  • Synthesis of clinical and electroencephalographic findings.

Main Results:

  • Discussion of the general concept of epileptic syndromes.
  • Detailed summary of seven specific syndromes: epilepsy of infancy with migrating focal seizures, myoclonic epilepsy of infancy, self-limited infantile epilepsy, myoclonic encephalopathy in nonprogressive disorders, Jeavons syndrome, and epilepsy with myoclonic absences.
  • Emphasis on key features for identification.

Conclusions:

  • Understanding epileptic syndromes is vital for pediatric neurology.
  • Familiarity with uncommon syndromes improves diagnostic accuracy.
  • The review provides essential information for recognizing and managing these rare epilepsy types.

Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
850
Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
599
Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

Antiepileptic Drugs: GABAergic Pathway Potentiators

γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
871
Antiepileptic Drugs: Calcium Channel Blockers01:17

Antiepileptic Drugs: Calcium Channel Blockers

Calcium channel blockers, a class of antiepileptic drugs, regulate the flow of calcium ions within neurons.
Calcium channel blockers exert their antiepileptic effects by targeting T-type calcium channels, which are integral to transmitting nerve signals in the central nervous system. These channels allow the passage of calcium ions, which are vital for neuronal communication. By inhibiting T-type calcium channels, calcium channel blockers effectively reduce the release of neurotransmitters and...
811
Antiepileptic Drugs: Sodium Channel Blockers01:08

Antiepileptic Drugs: Sodium Channel Blockers

Antiepileptic drugs are specialized medications that prevent seizures in individuals diagnosed with epilepsy. These drugs primarily function by blocking the movement of sodium ions through channels in the neuronal membrane, inhibiting the repetitive firing of action potentials often associated with seizures.
Sodium channel blockers modulate ion channels, particularly voltage-gated sodium channels. They block only sodium ion movement.
Among the most commonly prescribed antiepileptic drugs are...
1.2K
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
394