Figure 1.
Overview of RBFOX1 and RBFOX3 affecting variants.
Hg19 genomic localization and overview of known transcript variants. Red bars represent microdeletion size and location for the patient. Red dashes indicate the genomic location of single nucleotide variants. (A) Overview RBFOX1 (B) RBFOX3.
Table 1.
RBFOX1and RBFOX3 variants and phenotype of index-patients.
Figure 2.
Segregation of RBFOX1 and RBFOX3 affecting variants.
For three mutations for which DNA samples of family members were available, segregation analyses could be performed. The respective RBFOX1 and RBFOX3 truncating mutations co-segregated with a variable phenotype of either seizures or pathologic EEG patterns in most family members. Only a few individuals carried the respective familial mutation but did not present any clinical features, indicating incomplete penetrance of the mutations. However, subclinical phenotypes (e.g. EEG patterns) have not been investigated in these individuals (indicated by question mark). In family 3 the variant (deletion of two consecutive alanine residues at position 299–300 of RBFOX1) did not segregate with the epilepsy phenotype. Abbreviations: n.a = DNA was not available for testing; RE = rolandic epilepsy; CTS = centrotemporal spikes; ESES = encephalopathy with status epilepticus during sleep.