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