Brunklaus, Andreas <br/><br/>
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.  [electronic resource] 

 -  Epilepsia  03 2020 
 - 387-399 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1528-1167 
<br/><br/><label>Standard No.: </label>10.1111/epi.16438  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Age of Onset<br/>Autism Spectrum Disorder--genetics<br/>Child<br/>Child, Preschool<br/>Codon, Nonsense<br/>DNA Copy Number Variations<br/>Electroencephalography<br/>Epileptic Syndromes--drug therapy<br/>Female<br/>Gain of Function Mutation<br/>Gene Deletion<br/>Gene Duplication<br/>Gene Expression<br/>Gene Expression Regulation, Developmental<br/>Genotype<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Loss of Function Mutation<br/>Male<br/>Mutation, Missense<br/>NAV1.1 Voltage-Gated Sodium Channel--genetics<br/>NAV1.2 Voltage-Gated Sodium Channel--genetics<br/>NAV1.3 Voltage-Gated Sodium Channel--genetics<br/>NAV1.6 Voltage-Gated Sodium Channel--genetics<br/>Neurodevelopmental Disorders--genetics<br/>Phenotype<br/>Sodium Channel Blockers--therapeutic use<br/>Sodium Channels--genetics