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