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.
|
Trigger: Exercise
Delayed language development Epileptic seizures (of any type) Developmental regression Ataxia Trigger: Sleep deprivation Delayed motor development Speech disturbance Delayed cognitive development Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
15
|
n.a.
|
Developmental regression
Trigger: Sleep deprivation Speech disturbance Delayed cognitive development Attacks – bilateral Epileptic seizures (of any type) Postural tremor Trigger: Exercise Attacks - face Show more (+6) |
n.a.
|