| scholarly article | Q13442814 |
| P50 | author | Amy McTague | Q83626382 |
| P2093 | author name string | Manju A Kurian | |
| Lucy Jenkins | |||
| Christopher Boustred | |||
| Jane A Hurst | |||
| Richard H Scott | |||
| Adeline Ngoh | |||
| Esther Meyer | |||
| Deborah Morrogh | |||
| Helen Brittain | |||
| Apostolos Papandreou | |||
| Rodger Palmer | |||
| Natalie Trump | |||
| P2860 | cites work | If not Angelman, what is it? A review of Angelman-like syndromes | Q87777360 |
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| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
| Rett syndrome: revised diagnostic criteria and nomenclature | Q24596295 | ||
| Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. | Q24602558 | ||
| A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction | Q24626279 | ||
| VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing | Q24628978 | ||
| Mutations in PNKP cause microcephaly, seizures and defects in DNA repair | Q24630555 | ||
| Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features | Q24643177 | ||
| FOXG1 is responsible for the congenital variant of Rett syndrome | Q24647431 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP | Q28111582 | ||
| KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum | Q28208104 | ||
| Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes | Q28236400 | ||
| The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy | Q28272644 | ||
| The major form of MeCP2 has a novel N-terminus generated by alternative splicing | Q28511496 | ||
| The UCSC Table Browser data retrieval tool | Q29614432 | ||
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| De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy | Q30540814 | ||
| The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis | Q33924011 | ||
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| SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome | Q36718915 | ||
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| Clinical spectrum of SCN2A mutations. | Q37949707 | ||
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| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | seizure | Q6279182 |
| P304 | page(s) | 310-317 | |
| P577 | publication date | 2016-03-18 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis | |
| P478 | volume | 53 |
| Q52321062 | A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. |
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| Q33602746 | A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model |
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| Q47676169 | Commentary: 2016 Clinical Epilepsia Prize |
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| Q91239881 | De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy |
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| Q39172712 | Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. |
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| Q47648187 | Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index |
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| Q39136036 | The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. |
| Q64042033 | The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study |
| Q55024467 | Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies. |
| Q37741362 | Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching |
| Q91838362 | What is the role of next generation sequencing in status epilepticus? |
| Q37685114 | When Should Genetic Testing Be Performed in Epilepsy Patients? |
| Q30838646 | X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. |
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