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Related Concept Videos

Epilepsy and Seizures: Overview01:24

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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...
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Seizures: Classification01:13

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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.
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Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
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Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

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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.
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Antiepileptic Drugs: Potassium Channel Activators01:20

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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.
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Antiepileptic Drugs: Glutamate Antagonists01:14

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Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
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Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy
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FHF1 (FGF12) epileptic encephalopathy.

Sameer Al-Mehmadi1, Miranda Splitt1,

  • 1Program in Genetics and Genome Biology and Division of Neurology (S.A.-M., B.A.M.), Department of Paediatrics, The Hospital for Sick Children, and University of Toronto, Ontario, Canada; Institute of Genetic Medicine (M.S.), International Centre for Life, Pediatric Neurology (V.R.), Newcastle General Hospital, UK; Center for Human Genetics (S.D., K.D.), UH Case Medical Center, Cleveland, OH; Department of Molecular and Human Genetics (F.X., Y.Y., J.A.R.), Baylor College of Medicine, Houston, TX; Baylor Miraca Genetics Laboratories (F.X., Y.Y.), Houston, TX; The Deciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; Division of Neurology (P.C.), CHUM Notre-Dame, Hospital University of Montreal, Quebec, Canada; Department of Pediatrics (J.L.M., P.M.C.), Department of Neurosciences (J.L.M., P.M.C.), Université de Montréal, Québec, Canada; and CHU Sainte-Justine Research Center (J.L.M., F.A.H., P.M.C.), Montreal, Quebec, Canada.

Neurology. Genetics
|November 11, 2016
PubMed
Summary

Mutations in Fibroblast-Growth-Factor Homologous Factor 1 (FHF1) cause early-onset epileptic encephalopathy. This gain-of-function disease, observed in five patients, may be treatable with personalized therapies.

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Area of Science:

  • Neuroscience
  • Genetics
  • Channelopathies

Background:

  • Voltage-gated sodium channels (Navs) are crucial for neuronal function.
  • Mutations in CNS Nav genes cause severe genetic epilepsies and epileptic encephalopathies (EE).
  • Fibroblast-growth-factor homologous factors (FHFs) modulate Nav channel inactivation.

Purpose of the Study:

  • To characterize the clinical presentation and genetic basis of early-onset epileptic encephalopathy associated with FHF1 mutations.
  • To investigate the functional consequences of the FHF1 p.R52H mutation.

Main Methods:

  • Clinical case series analysis.
  • Genetic sequencing to identify FHF1 mutations.
  • Functional studies of Nav channel modulation by FHF1 variants (implied).

Main Results:

  • Three unrelated patients presented with the same de novo FHF1 p.R52H mutation.
  • This mutation was previously reported in two siblings, totaling five cases.
  • The FHF1 R52H epileptic encephalopathy spans from infancy to adulthood.

Conclusions:

  • The FHF1 p.R52H mutation is a cause of early-onset epileptic encephalopathy.
  • This gain-of-function disease presents a spectrum of severity and age of onset.
  • Personalized therapeutic strategies may be effective for FHF1-related epilepsy.