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