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Genes (9)
Species: human : 9 | |
Human | EIG3 | 432400 | Epilepsy, idiopathic generalized, susceptibility to 3 | Benign neonatal familial convulsions (see {601764}, {121200}, {121201}, and {269720}) | Human | EIG2 | 353124 | Epilepsy, idiopathic generalized, susceptibility to 2 | Benign neonatal familial convulsions (see {601764}, {121200}, {121201}, and {269720}) | Human | SCN2A | 6326 | sodium channel, voltage-gated, type II, alpha subunit | See also benign neonatal epilepsy (EBN1, {121200}) | Human | OPRM1 | 4988 | opioid receptor, mu 1 | Benign neonatal familial convulsions (see {601764}, {121200}, {121201}, and {269720}) | Human | ME2 | 4200 | malic enzyme 2, NAD(+)-dependent, mitochondrial | Benign neonatal familial convulsions (see {601764}, {121200}, {121201}, and {269720}) | Human | KCNQ3 | 3786 | potassium voltage-gated channel, KQT-like subfamily, member 3 | Several BFNC mutations of KCNQ2 and KCNQ3 disrupt surface expression or polarized surface distribution of KCNQ channels, thereby revealing impaired targeting of KCNQ channels to axonal surfaces as a benign familial neonatal convulsions (BFNC) etiology the KCNQ2 mutation is responsible for the benign familial neonatal convulsion phenotype, possibly because of haplo-insufficiency, whereas the KCNQ3 variant is functionally silent | Human | KCNQ2 | 3785 | potassium voltage-gated channel, KQT-like subfamily, member 2 | the KCNQ2 mutation is responsible for the benign familial neonatal convulsion phenotype, possibly because of haplo-insufficiency, whereas the KCNQ3 variant is functionally silent Frameshift mutation in a Chinese family causes benign familial neonatal convulsions Benign familial neonatal convulsions (BFNC) have been previously found to be associated with mutations within the coding region of KCNQ2 A novel 2-base pair deletion within the coding sequence of the KCNQ2 gene is detected in patients from a large and heterogeneous family with benign neonatal familial convulsions (BNFCs) or non-BNFC seizures This study reveals a novel missense mutation (N258S) in the KCNQ2 gene between the S5 domain and the pore of the potassium channel in two patients in a Turkish family with benign familial neonatal convulsions A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with benign familial neonatal convulsions | Human | EGI | 1957 | epilepsy, generalized, idiopathic | Benign neonatal familial convulsions (see {601764}, {121200}, {121201}, and {269720}) | Human | CACNB4 | 785 | calcium channel, voltage-dependent, beta 4 subunit | Benign neonatal familial convulsions (see {601764}, {121200}, {121201}, and {269720}) |
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