SCN1A

 1970s–1980s – Voltage-gated sodium channels were identified as crucial for nerve and muscle excitability.

Early work divided sodium channels into isoforms (Nav1.1, Nav1.2, etc.), encoded by distinct genes.

1995–1996 – The SCN1A gene was mapped to chromosome 2q24.3.

It was found to encode the alpha subunit of the Nav1.1 sodium channel, highly expressed in the brain, especially in GABAergic inhibitory interneurons.

1998–2000 – Mutations in SCN1A were first linked to Generalized Epilepsy with Febrile Seizures Plus (GEFS+).

2001–2003 – Breakthrough: SCN1A mutations identified as the major cause of Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy).This established SCN1A as one of the most clinically important epilepsy genes.

                                                                 Dravet Syndrome

                                                     Severe Myoclonic Epilepsy Of Infancy

                      

                                                                Drug Resistant Epilepsy

Snapshot