Disease: Familial benign neonatal epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 Biomarker disease BEFREE The data here presented demonstrate that the BFNC gene is not responsible for BIFC. 8154876 1994
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 Biomarker disease BEFREE Linkage is established for three generalized syndromes: the EBN1 and EBN2 genes for benign familial neonatal convulsions (BFNC) map to chromosomes 20q and 8q (refs 2-5), the EPM1 gene for Unverricht-Lundborg disease maps to 21q (ref. 7647781 1995
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Here we report on a second BFNC family in which linkage to the EBN1 locus on chromosome 20q was excluded, confirming the genetic heterogeneity of this disorder. 7705837 1995
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 Biomarker disease BEFREE Benign childhood epilepsy with centrotemporal spikes and electroencephalography trait are not linked to EBN1 and EBN2 of benign neonatal familial convulsions. 9579905 1997
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Five other BFNC probands were shown to have KCNQ2 mutations, including two transmembrane missense mutations, two frameshifts and one splice-site mutation. 9425895 1998
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 Biomarker disease BEFREE We predict that a 25% loss of heteromeric KCNQ2/KCNQ3-channel function is sufficient to cause the electrical hyperexcitability in BFNC. 9872318 1998
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. 10323247 1999
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Here, we describe a four-generation BFNC family carrying a novel mutation within the distal, unconserved C-terminal domain of KCNQ2, a 1-bp deletion, 2513delG, in codon 838 predicting substitution of the last seven and extension by another 56 amino acids. 10482260 1999
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Two highly homologous voltage-gated potassium channels, KCNQ2 and KCNQ3, were found to be mutated in benign familial neonatal convulsions. 10446744 1999
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE We studied the KCNQ2 coding region in a large, four-generation, Italian family with BFNC. 11175290 2000
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE A KCNQ2 mutant associated with BFNC that has a truncated cytoplasmic carboxyl terminus did not reach the surface and failed to stimulate KCNQ3 surface expression. 10788442 2000
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE The open reading frame of the translated protein comprises 852 amino acids with 6 transmembrane segments and a pore motif between S5 and S6. rKCNQ2 shares 96% amino acid identity with human KCNQ2 in which mutations cause a form of epilepsy known as benign familial neonatal convulsions (BFNC). 11038262 2000
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE In 1998, mutations in the voltage gated potassium channel gene KCNQ2 were found to be the main cause underlying the autosomal dominant inherited syndrome of benign familial neonatal convulsions (BFNC). 10884071 2000
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Here we describe a large family with BFNC in which we found a previously undescribed mutation in the KCNQ2 gene. 10774989 2000
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Benign familial neonatal convulsions (BFNC) have been previously found to be associated with mutations within the coding region of KCNQ2. 11726784 2001
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Mutations in the potassium channel subunit KCNQ2 lead to benign familial neonatal convulsions, a dominantly inherited form of generalized epilepsy. 11739564 2001
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 Biomarker disease BEFREE So far, the genetic defects underlying three different idiopathic epilepsy syndromes have been identified: mutations in the CHRNA4- or CHRNB subunits of the neuronal nicotinic acetylcholine receptor are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage-gated potassium channels KCNQ2 and KCNQ3 have recently been identified in benign familial neonatal convulsions. 11579434 2001
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE In 1998, a decade of clinical and laboratory-based genetics work resulted in the cloning of the KCNQ2 potassium channel gene at the BFNC locus on chromosome 20. 11887968 2001
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC. 11572947 2001
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Here we show that KCNQ2/KCNQ3 channels carrying a novel BFNC-causing mutation leading to an arginine to tryptophan substitution in the voltage-sensing S4 domain of KCNQ2 subunits (R214W) displayed slower opening and faster closing kinetics and a decreased voltage sensitivity with no concomitant changes in maximal current or plasma membrane expression. 11784811 2002
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Several mutations of either KCNQ2 or KCNQ3, members of the KCNQ-related K+-channel (KCNQ-channel) family, were identified as a cause of BFNC. 12383278 2002
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 Biomarker disease BEFREE Mutations in the CHRNA4 or CHRNB subunits of the neuronal nicotinic acetylcholine receptor lead to familial nocturnal frontal lobe epilepsy, while defects in the voltage-gated potassium channels KCNQ2 and KCNQ3 have recently been found to cause benign familial neonatal convulsions. 11888238 2002
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Mutations in the voltage-gated potassium channel genes KCNQ2 and KCNQ3 have been found to cause benign familial neonatal convulsions. 12395102 2002
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 Biomarker disease BEFREE KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157 2003
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GeneticVariation disease BEFREE Mutations in the voltage gated K(+)-channel gene KCNQ2 are known to cause benign familial neonatal convulsions (BFNC), which are characterized by a benign course, spontaneous remission and normal psychomotor development. 12742592 2003