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15 patient data entries collated from reference Tzoulis et al, 2014.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
545A467T2
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
n/a1544
546A467T2
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
childhood
n/a847
547A467T2
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
n/a1653
548W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
childhood
n/a641
549W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy
-epilepsy
-movement disorder (ataxia)
-stroke
juvenile
n/a1524
550W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
n/a1743
551W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
childhood
n/a1228
552W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy.
-epilepsy
-movement disorder (ataxia)
-stroke
infantile
n/a213
553W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
n/a1624
554W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
n/a1557
555W748S5
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy.
-epilepsy
-movement disorder (ataxia)
-stroke
juvenile
n/a1423
556W748S5
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy.
-epilepsy
-movement disorder (ataxia)
-stroke
juvenile
n/a1321
557G303R3
A467T2
Epilepsy, stroke-like episode.
-epilepsy
-stroke
infantile
n/a0.91.1
558G303R3
A467T2
Epilepsy, stroke-like episode, Ataxia.
-epilepsy
-movement disorder (ataxia)
-stroke
infantile
n/a28
559G848S1
A467T2
Epilepsy, stroke-like episode.
-epilepsy
-stroke
infantile
n/a0.60.6

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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