Mullen, 2011: Overview of all reported PxMD-SLC2A1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
12
|
n.a.
|
Developmental regression
Delayed motor development Delayed language development Ataxia Delayed cognitive development Speech disturbance Trigger: Exercise Epileptic seizures (of any type) Trigger: Sleep deprivation Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
15
|
n.a.
|
Attacks – bilateral
Attacks - face Epileptic seizures (of any type) Delayed cognitive development Trigger: Exercise Trigger: Sleep deprivation Postural tremor Developmental regression Speech disturbance Show more (+6) |
n.a.
|