Table I.
Diseases and injuries associated with the altered AIS structure and function.
| Gene name | Associated disorders | Reference |
|---|---|---|
| SCN1A | GEFS+ (generalized epilepsy with febrile seizures plus) | 127 |
| Dravet syndrome-severe myoclonic epilepsy in infancy (SMEI) | 128 | |
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| ||
| SCN1B | GEFS+ | 129,130 |
| Dravet syndrome | 131 | |
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| SCN2A | Dravet syndrome | 132 |
| Benign familial infantile seizures (BFIS) | 133 | |
| Ohtahara syndrome (OS) | 134 | |
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| ||
| SCN8A | Early onset epileptic encephalopathies (EOEEs) | 135 |
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| KCNQ2/3 | BFIS | 136 |
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| ANK3 | Bipolar disorder | 102,103 |
|
| ||
| ANK3 exon1b | Epilepsy & bipolar disorder | 104 |
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| ANK3 480 kDa | Intellectual disability | 105 |
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| ANK3 | Schizophrenia | 137 |
|
| ||
| ANK3 | Autism spectrum disorder | 138 |
|
| ||
| SPNB4 | (Spectrinopathy?) Congenital myopathy, neuropathy and deafness | 111 |
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| SPTAN1 | West syndrome | 112–114 |
| Diseases or injuries could alter AIS structure | ||
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| ||
| UBE3A | Angelman syndrome | 116 |
| Focal cortical and white matter stroke | 126 | |
| Hypoxia-induced ischemic injury | 85 | |
| Traumatic brain injuries | 124,125 | |
| Alzheimer’s disease | 121 | |
| Multiple Sclerosis | 122 | |