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