| case report | Q2782326 |
| scholarly article | Q13442814 |
| P50 | author | Joris R Vermeesch | Q60061382 |
| Hilde Van Esch | Q28468811 | ||
| P2093 | author name string | Hilde Van Esch | |
| Koen Devriendt | |||
| Berten Ceulemans | |||
| Liesbeth Backx | |||
| P2860 | cites work | Developmental profile of neuregulin receptor ErbB4 in postnatal rat cerebral cortex and hippocampus. | Q48105239 |
| Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features. | Q50341503 | ||
| Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. | Q51907594 | ||
| Short- and long-range attraction of cortical GABAergic interneurons by neuregulin-1. | Q54392856 | ||
| [Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family] | Q77365564 | ||
| The neuregulin-I/ErbB signaling system in development and disease | Q24302487 | ||
| Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
| A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) | Q24678062 | ||
| Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans | Q28207647 | ||
| The three stages of epilepsy in patients with CDKL5 mutations | Q28268280 | ||
| Expression of the c-erbB-4/HER4 protein and mRNA in normal human fetal and adult tissues and in a survey of nine solid tumour types | Q28285266 | ||
| Defects in pathfinding by cranial neural crest cells in mice lacking the neuregulin receptor ErbB4 | Q28506344 | ||
| Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor | Q28509287 | ||
| Neural development of the neuregulin receptor ErbB4 in the cerebral cortex and the hippocampus: preferential expression by interneurons tangentially migrating from the ganglionic eminences | Q28578423 | ||
| Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons | Q28584324 | ||
| Receptor tyrosine kinase ErbB4 modulates neuroblast migration and placement in the adult forebrain | Q28595048 | ||
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
| The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter | Q33944533 | ||
| Erbb4 and its isoforms: selective regulation of growth factor responses by naturally occurring receptor variants. | Q34245514 | ||
| Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant expression in the brain in schizophrenia | Q34590284 | ||
| Neural and mammary gland defects in ErbB4 knockout mice genetically rescued from embryonic lethality | Q35167885 | ||
| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. | Q36930153 | ||
| Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. | Q40449967 | ||
| Behavioral characteristics of a nervous system-specific erbB4 knock-out mouse | Q46523281 | ||
| P433 | issue | 3 | |
| P921 | main subject | early myoclonic encephalopathy | Q5326887 |
| P304 | page(s) | 378-382 | |
| P577 | publication date | 2008-10-15 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 | |
| P478 | volume | 17 |
| Q34543571 | A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy |
| Q54261485 | A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability. |
| Q33692336 | Association study of neuregulin-1 gene polymorphisms in a North Indian schizophrenia sample |
| Q40817583 | Calpain-Dependent ErbB4 Cleavage Is Involved in Brain Ischemia-Induced Neuronal Death |
| Q38213837 | Clinical management of epileptic encephalopathies of childhood and infancy |
| Q38188895 | Considering specific clinical features as evidence of pathogenic copy number variants |
| Q40839066 | Contribution of NRG1 Gene Polymorphisms in Temporal Lobe Epilepsy |
| Q35591685 | Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function |
| Q40777975 | ErbB4 modulates tubular cell polarity and lumen diameter during kidney development |
| Q30000781 | Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy |
| Q42143538 | Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy. |
| Q34000883 | Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness |
| Q48204966 | Neuregulin 1 represses limbic epileptogenesis through ErbB4 in parvalbumin-expressing interneurons |
| Q54375474 | Neuregulin 1-induced AKT and ERK phosphorylation in patients with fragile X syndrome (FXS) and intellectual disability associated with obstetric complications. |
| Q38225912 | Neuregulin-ERBB signaling in the nervous system and neuropsychiatric diseases |
| Q36804007 | Neurological dysfunctions associated with altered BACE1-dependent Neuregulin-1 signaling |
| Q92542992 | New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies |
| Q26777746 | Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice |
| Q24618674 | Specific regulation of NRG1 isoform expression by neuronal activity |
| Q37257128 | Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. |
| Q38187700 | The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy |
| Q57233954 | Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese |
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