Paroxysmal Choreoathetosis in a Child with SCN2A Mutation and Neonatal Seizures

@article{Thodeson2017ParoxysmalCI,
  title={Paroxysmal Choreoathetosis in a Child with SCN2A Mutation and Neonatal Seizures},
  author={Drew Michael Thodeson},
  journal={Open Access Journal},
  year={2017},
  volume={4}
}
SCN2A mutations are associated with a broad spectrum of neurological phenotypes ranging from neonatal or infantile seizures with normal development to epileptic encephalopathies with severe developmental delay. Recently, movement disorders in children with SCN2A mutations and epileptic encephalopathies including infantile spasms has been described [1,2]. We present a case of a typically developing girl with a history of neonatal seizures due to a novel de novo SCN2A mutation who developed… Expand

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SHOWING 1-9 OF 9 REFERENCES
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
TLDR
This report reports the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene, who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy. Expand
SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum
TLDR
This study extends the age range of presentation of BFNIS, confirms that neonatal and early infantile onsets are characteristic, and emphasizes the role of molecular diagnosis to confirm the etiology. Expand
SCN2A encephalopathy
TLDR
It is shown that SCN2A is the second most common cause of EIMFS and, importantly, does not always have a poor developmental outcome and sodium channel blockers, particularly phenytoin, may improve seizure control. Expand
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia
TLDR
The findings broaden the clinical spectrum observed with SCN2A gain-of-function mutations, showing that fairly different biophysical mechanisms can cause a convergent clinical phenotype of neonatal seizures and later onset episodic ataxia. Expand
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders
TLDR
The results of this study suggest that specific accompanying phenotypes such as hyperkinetic movements or hand stereotypies could be important in narrowing the disease spectrum and identifying causative genetic abnormalities. Expand
Benign familial infantile seizures
TLDR
The age at onset, the semeiology of the seizures and the genetic data distinguish the benign familial infantile seizures from the benignilial neonatal seizures, which recent data suggested that this type of epilepsy would be due to a channellopathy. Expand
ERRATUM: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
TLDR
Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certifiedclinical molecular geneticist or molecular genetic pathologist or the equivalent. Expand
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