A genetic diagnostic approach to infantile epileptic encephalopathies
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery
Reference82 articles.
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2. What causes epileptic encephalopathy in infancy?: the answer may lie in our genes;Holland;Neurology,2010
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4. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009;Berg;Epilepsia,2010
5. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology;Engel;Epilepsia,2001
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1. Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients;Genes;2022-05-19
2. Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy;Pediatric Neurology;2018-12
3. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness;Molecular Genetics & Genomic Medicine;2018-01-04
4. Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy;Epilepsia Open;2017-05-04
5. Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies;Scientific Reports;2017-03-21
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