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neurolists:genetic_mutations_associated_epileptic_encephalopathies [2020/02/01 17:02] – ↷ Page moved from neurolists:genetic_mutations_associated_epileptic_encephalopathies to investigations:cerebrospinal_fluid:neurolists:genetic_mutations_associated_epileptic_encephalopathies icna | neurolists:genetic_mutations_associated_epileptic_encephalopathies [2024/03/09 20:32] (current) – biju.hameed@gmail.com | ||
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+ | ====== Genetic mutations associated with epileptic encephalopathies ====== | ||
+ | ^ Genetic mutations associated with epileptic encephalopathies presenting in infancy | ||
+ | | Mutation Site | Ohtahara Syndrome | ||
+ | | ARX | Yes | | Yes | | ||
+ | | CDKL5 | | | Yes | | Yes | ||
+ | | ErbB4 | | Yes | | | ||
+ | | MAGI2 | | | Yes | | ||
+ | | PCDH19 | ||
+ | | PNKP | Yes | | Yes | | ||
+ | | SCN1A | | | | Yes | ||
+ | | SLC25 A22 | Yes | | | | ||
+ | | STXBP1 | ||
+ | Source[(: | ||
+ | ===== References ===== | ||