| scholarly article | Q13442814 |
| P2093 | author name string | Jong-Il Kim | |
| Jong Hee Chae | |||
| Soo Yeon Kim | |||
| Byung Chan Lim | |||
| Hee Hwang | |||
| Ki Joong Kim | |||
| Hunmin Kim | |||
| Se Song Jang | |||
| P2860 | cites work | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. | Q50594407 |
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| Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. | Q24602558 | ||
| De novo mutations in epileptic encephalopathies | Q24621776 | ||
| Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly | Q27312451 | ||
| Understanding Genotypes and Phenotypes in Epileptic Encephalopathies | Q28080066 | ||
| Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009 | Q28274778 | ||
| Copy number variation detection and genotyping from exome sequence data | Q30422583 | ||
| Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples | Q34327021 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform | Q35079979 | ||
| Copy number variation plays an important role in clinical epilepsy | Q35804664 | ||
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| De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies | Q37152969 | ||
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| Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome | Q37279405 | ||
| Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies | Q37356251 | ||
| Prevalence and incidence of epilepsy: A systematic review and meta-analysis of international studies | Q38781650 | ||
| Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. | Q39172712 | ||
| Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study | Q39441869 | ||
| Pitfalls in genetic testing: the story of missed SCN1A mutations | Q39552867 | ||
| Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? | Q41612845 | ||
| Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy | Q45212007 | ||
| The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. | Q46356948 | ||
| Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. | Q47825681 | ||
| Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes | Q48585931 | ||
| Paediatric genomics: diagnosing rare disease in children | Q49886189 | ||
| Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. | Q50065261 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P921 | main subject | seizure | Q6279182 |
| P304 | page(s) | 988 | |
| P577 | publication date | 2019-09-13 | |
| P1433 | published in | Frontiers in Neurology | Q15817039 |
| P1476 | title | Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life | |
| P478 | volume | 10 |
| Q98218002 | Nonseizure consequences of Dravet syndrome, KCNQ2-DEE, KCNB1-DEE, Lennox-Gastaut syndrome, ESES: A functional framework | cites work | P2860 |
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