| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | Biomarker | disease | BEFREE | The following overview examines recent research developments looking particularly at the potential role of the peptide neurotransmitter substance P and its neurokinin-1 receptor in multiple nuclei within the brainstem, asymmetry and microdysgenesis of the hippocampus, and decreased orexin levels within dorsomedial, perifornical, and lateral levels in the hypothalamus. | 29759045 | 2018 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | The following overview examines recent research developments looking particularly at the potential role of the peptide neurotransmitter substance P and its neurokinin-1 receptor in multiple nuclei within the brainstem, asymmetry and microdysgenesis of the hippocampus, and decreased orexin levels within dorsomedial, perifornical, and lateral levels in the hypothalamus. | 29759045 | 2018 | ||||
|
0.010 | Biomarker | disease | BEFREE | Variant ICK affects cell processes that help explain microdysgenesis and polyspike networks observed on EEG in juvenile myoclonic epilepsy. | 29539279 | 2018 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | We reviewed whether variants damage EFHC1 functions, whether efhc1<sup>-/-</sup> KO mice recapitulate CTC convulsions and "microdysgenesis" neuropathology, and whether supernumerary synaptic and dendritic phenotypes can be rescued in the fly model when EFHC1 is overexpressed. | 27467453 | 2017 | ||||
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0.010 | Biomarker | disease | BEFREE | NHGRI gene-level evidence and variant-level evidence establish EFHC1 as the first non-ion channel microtubule-associated protein whose mutations disturb R-type VDCC and TRPM2 calcium currents in overgrown synapses and dendrites within abnormally migrated dislocated neurons, thus explaining CTC convulsions and "microdysgenesis" neuropathology of JME.Genet Med 19 2, 144-156. | 27467453 | 2017 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract. | 15159500 | 2004 |