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| Genetic Epilepsy v0.1211 | SLC4A4 | Zornitza Stark Marked gene: SLC4A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1211 | SLC4A4 | Zornitza Stark Gene: slc4a4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1211 | SLC4A4 |
Zornitza Stark gene: SLC4A4 was added gene: SLC4A4 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 33439394 Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Review for gene: SLC4A4 was set to RED Added comment: Bi-allelic variants in SLC4A4 cause a syndrome characterised by proximal renal tubular acidosis (pRTA), ID, dental and ocular abnormalities, and hemiplegic migraine. Single family reported with 4 affected individuals, where seizures were a prominent feature, with adult onset. Two developed life-threatening status epilepticus. Sources: Expert Review |
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