Epileptic Encephalopathies in Infants and Children

@article{Nordli2012EpilepticEI,
  title={Epileptic Encephalopathies in Infants and Children},
  author={D. Nordli},
  journal={Journal of Clinical Neurophysiology},
  year={2012},
  volume={29},
  pages={420–424}
}
  • D. Nordli
  • Published 2012
  • Psychology, Medicine
  • Journal of Clinical Neurophysiology
Summary: The term epileptic encephalopathy is used to describe diffuse brain dysfunction that is caused, at least in part, by some aspect of epilepsy. Early-infantile epileptic encephalopathy (EIEE), West syndrome, late infantile epileptic encephalopathy, and Lennox-Gastaut are four epilepsy syndromes. These epilepsies are also among the most severe with dire consequences including intractable seizures and severe cognitive dysfunction. These epilepsies share several important characteristics… Expand
Pediatric Epileptic Encephalopathies: Pathophysiology and Animal Models.
TLDR
Animal models of the three classic epileptic encephalopathies-West syndrome (infantile spasms), Lennox-Gastaut syndrome, and continuous spike waves during sleep or Landau-Kleffner syndrome are reviewed-with discussion of how animal models are revealing underlying pathophysiological mechanisms that might be amenable to targeted therapy. Expand
The Genetic Epilepsies
TLDR
The clinical features of nine developmentally specific genetic epilepsy syndromes are presented, including benign familial neonatal epilepsy, infantile and childhood epileptic encephalopathies, febrile seizures, genetic epilepsy with febRIle seizures plus (GEFS +), Dravet syndrome, childhood absence epilepsy, juvenile myoclonic epilepsy, autosomal dominant nocturnal frontal lobe epilepsy, and autosome dominant epilepsy with auditory features. Expand
Do seizures and epileptic activity worsen epilepsy and deteriorate cognitive function?
TLDR
The results of EE studies challenge the idea of a common seizure‐dependent mechanism for epilepsy progression/intellectual deterioration, and suggest high seizure frequency and bad outcome can both depend on a particularly aggressive epileptogenic process. Expand
[Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis].
TLDR
The revolution of the genetic knowledge about epileptic encephalopathies of childhood has led to a complex diagnostic approach that poses significant implications in genetic counselling, treatment and prognosis. Expand
Diagnosis and Management of Epileptic Encephalopathies in Children
TLDR
This review briefly describes the clinical evaluation and management of commonly encountered epileptic encephalopathies in children. Expand
Attention Deficit Associated with Early Life Interictal Spikes in a Rat Model Is Improved with ACTH
Children with epilepsy often present with pervasive cognitive and behavioral comorbidities including working memory impairments, attention deficit hyperactivity disorder (ADHD) and autism spectrumExpand
SCN8A p.Arg1872Gln mutation in early infantile epileptic encephalopathy type 13: Review and case report
TLDR
It is suggested that this SCN8A mutation has a primary neurodegenerative effect leading to brain atrophy and intellectual disability (with or without autism) that is partially independent of its epileptogenic effect. Expand
Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy
TLDR
Genetic testing of this IEE panel of genes is recommended for cryptogenic IEE with no etiology identified and these 7 genes are associated with channelopathies or synaptic transmission and it is recommended early genetic testing if possible to guide the treatment strategy. Expand
Genetic mutations associated with status epilepticus
TLDR
The clinical utility of what is currently known about the genetics of status epilepticus is slight and the findings have had little impact on clinical treatment despite what has been a very large investment in money and time. Expand
Cannabis for Pediatric Epilepsy.
TLDR
Overall, cannabis herbal extracts appear to provide greater efficacy in decreasing seizure frequency, but the studies assessing cannabis herbal extract are either retrospective or small-scale observational studies. Expand
...
1
2
3
4
...

References

SHOWING 1-10 OF 105 REFERENCES
Clinical management of epileptic encephalopathies of childhood and infancy
  • A. Covanis
  • Medicine
  • Expert review of neurotherapeutics
  • 2014
TLDR
The clinical and EEG characteristics, evolution and management of age-related epileptic encephalopathies, recognized by the International League Against Epilepsy, are discussed. Expand
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
TLDR
It is demonstrated that about 20% of cases of LKS, CSWSS and electroclinically atypical rolandic epilepsy often associated with speech impairment can have a genetic origin sustained by de novo or inherited mutations in the GRIN2A gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor α2 subunit, GluN2A). Expand
Role of interictal epileptiform abnormalities in cognitive impairment
TLDR
It is suggested that interictal spikes, particularly if frequent and widespread, can impair cognitive abilities, through interference with waking learning and memory, and memory consolidation during sleep. Expand
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor development is impaired by recurrent clinical seizures or prominent interictal epileptiformExpand
“Epileptic Encephalopathy” of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings
TLDR
To improve the long-term cognitive/behavioural prognosis in these refractory epileptic children, it should be taken into account both a good seizures control and a strict sleep control, choosing carefully antiepileptic drugs which are able to control not only seizures clinically recognizable but even the EEG discharges onset and its increasing and spreading during sleep. Expand
Seizure disorders in infancy and childhood
Of various topics concerning convulsive disorders in children, long-term prognosis of childhood epilepsy and developmental aspects of age-dependent epileptic encephalopathy (ADEE) were described.Expand
Epileptic Encephalopathies: New Genes and New Pathways
TLDR
The use of conventional and newer anti-epileptic and hormonal medications in the various syndromes based on their genetic profile are described, including Ohtahara syndrome, Dravet syndrome, Infantile spasms and Lennox Gastaut syndrome. Expand
Malignant migrating partial seizures in infancy: An epilepsy syndrome of unknown etiology
The syndrome of malignant migrating partial seizures in infancy was first reported in 1995, and is now included among the childhood epilepsy syndromes in development in the proposal of the revisionExpand
Classification of infantile seizures: implications for identification and treatment of inborn errors of metabolism.
TLDR
Recognition of metabolic disorders may be accomplished by careful study of clinical and electrographic characteristics, and there are important treatment considerations associated with these disorders. Expand
Severe Myoclonic Epilepsy of Infants (Dravet Syndrome): Natural History and Neuropsychological Findings
TLDR
The data suggest that SMEI can be considered as a prototype of an epileptic encephalopathy, and language capacities were better preserved than visuospatial functions, and behavior improved. Expand
...
1
2
3
4
5
...