| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.500 | GeneticVariation | disease | BEFREE | CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. | 16611748 | 2006 | ||||
|
0.500 | Biomarker | disease | BEFREE | Although null mutations of ARX in human patients result in the severe neurologic syndrome XLAG (X-linked lissencephaly associated with abnormal genitalia), the most common mutation is the expansion of the first polyalanine tract of ARX, which results primarily in the clinical syndrome ISSX (infantile spasms). | 24236044 | 2013 | ||||
|
0.500 | GeneticVariation | disease | BEFREE | ARX and CDKL5 genes were identified as linked to the most frequent genetic causes of West Syndrome. | 30236769 | 2019 | ||||
|
0.500 | GeneticVariation | disease | CLINVAR | |||||||
|
0.500 | GeneticVariation | disease | LHGDN | In conclusion, our report show that search for mutations in CDKL5 is indicated in girls with early onset of a severe intractable seizure disorder or infantile spasms with severe hypotonia, and in girls with RTT-like phenotype and early onset seizures, though, in our cohort, mutations in CDKL5 account for about 10% of the girls affected by these disorders. | 18790821 | 2008 | ||||
|
0.500 | GeneticVariation | disease | LHGDN | CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. | 16611748 | 2006 | ||||
|
0.500 | Biomarker | disease | HPO | |||||||
|
0.500 | GermlineCausalMutation | disease | ORPHANET | Genes of early-onset epileptic encephalopathies: from genotype to phenotype. | 22196487 | 2012 | ||||
|
0.500 | GermlineCausalMutation | disease | ORPHANET | CDKL5 disruption by t(X;18) in a girl with West syndrome. | 18564362 | 2008 |