<i>SPTAN1</i> —Results of a Caregiver Survey

<b><i>Background:</i></b> <i>SPTAN1</i> variants are thought to affect the scaffolding that protects the axonal segment of neurons as well as neuronal synapses. The <i>SPTAN1</i> gene is located in the 9q34.11 genomic region and encodes the cytoskeletal protein alpha II spectrin. Epilepsy, encephalopathy, and motor neuropathy are most commonly associated with <i>SPTAN1</i> variants. <b><i>Methods:</i></b> An informed consent and questionnaire were developed in order to gather information from caregivers regarding their family members' <i>SPTAN1</i> variant. Survey results are summarized descriptively, in order of frequency. <b><i>Results:</i></b> The results of a questionnaire filled out by the caregivers of loved ones who have a <i>SPTAN1</i> mutation are summarized for 25 individuals, 14 males and 11 females, who have the <i>SPTAN1</i> mutation. <b><i>Conclusions:</i></b> The results of this survey mirror those reported by other authors and include epilepsy, intellectual and motor delays, encephalopathy, and motor neuropathy. Additional effects of the <i>SPTAN1</i> mutation reported here include absent or difficult speech, happy personality, decline in cognitive and motor skills with age, vision and hearing abnormalities, organ and skeletal effects, autoimmune diseases, and weakened immune systems.