De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

By L. Claes, J. Del-Favero, B. Ceulemans, L. Lagae, Christine Van Broeckhoven, P. Jonghe. American Journal of Human Genetics, 2001

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011, neutral): “He is severely affected (CSS 8) with evidence of early onset, possible regression, language delay, a diagnosis of epilepsy and mild ID. SCN1A was previously associated with epilepsy and suggested as an ASD candidate 22,23 , although limited screening has been conducted in idiopathic ASD.”
Sodium Channel β4, a New Disulfide-Linked Auxiliary Subunit with Similarity to β2 (2003, background): “Other febrile epilepsy syndromes are also associated with mutations in the Nav1.1 channel (SCN1A; Escayg et al., 2000; Claes et al., 2001; Wallace et al., 2001).”
Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation (2007, background): “…in several human epileptic disorders, namely, generalized epilepsy with febrile seizure plus (GEFS ), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), and severe myoclonic epilepsy in infancy (SMEI) (Escayg et al., 2000; Claes et al., 2001; Fujiwara et al., 2003).”