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13 patient data entries in database for clusters W748S and W748S in age group "childhood".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
367W748S5
E1143G
E1143G
W748S5
Onset with tremor, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, eye muscle weakness, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased.
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-muscle weakness
-dysarthria
-tremor
childhood
5n/a35Hakonen et al, 2005;

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390W748S5
E1143G
W748S5
E1143G
Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 3 months prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus and multi-organ failure. Acute liver necrosis
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver dysfunction
-headache/ migraine
-nystagmus
childhood
8n/a9Tzoulis et al, 2006;

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391E1143G
W748S5
E1143G
W748S5
Presented with speech delay, ataxia, epilepsy, status epilepticus, and headaches. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus, multi-organ failure. Hepatic histology showed marked steatosis.
-status epilepticus
-epilepsy
-movement disorder (ataxia)
-liver dysfunction
-headache/ migraine
childhood
8n/a9Tzoulis et al, 2006;

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393W748S5
E1143G
W748S5
E1143G
Presented with progressive gait unsteadiness, ataxia, epilepsy, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset age 30. Mild liver dysfunction. Cause of death status epilepticus.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-PEO
-liver dysfunction
-headache/ migraine
childhood
4n/a30Tzoulis et al, 2006;

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394W748S5
E1143G
W748S5
E1143G
Presented with epilepsy, ataxia, status epilepticus, headaches, nystagmus, myoclonus, neuropathy, treatment with sodium valproate for 2 months, died 3 years later due to status epilepticus, disseminated intravascular coagulation, liver failure.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver failure
-headache/ migraine
-nystagmus
childhood
10n/a22Tzoulis et al, 2006;

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396E1143G
W748S5
W748S5
E1143G
Presented with migraine like headaches, ataxia, nystagmus, neuropathy, PEO/ Ptosis onset age >30
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
-nystagmus
childhood
1238n/aTzoulis et al, 2006;

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454W748S5
E1143G
W748S5
E1143G
Gait disturbance since childhood. Early onset suggested anticipation. In his 20's he developed photophobia and general clumsiness and benign paroxysmal positional vertigo. From the age of 37 he has had unspecific sensory polyneuropathy, confirmed by electromyography. He had several simple partial seizures at the age of 39, and has mild anxiety and depression.
-movement disorder (ataxia)
-polyneuropathy
childhood
541n/aPalin et al, 2012;

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462W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
childhood
6n/a41Tzoulis et al, 2013;

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465W748S5
W748S5
Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
childhood
1245n/aTzoulis et al, 2013;

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466W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
childhood
12n/a28Tzoulis et al, 2013;

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548W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
childhood
6n/a41Tzoulis et al, 2014;

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551W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
childhood
12n/a28Tzoulis et al, 2014;

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580W748S5
W748S5
early-onset ataxia, epilepsy, sensory neuropathy.
-epilepsy
-movement disorder (ataxia)
childhood
12.5n/an/aSchicks et al, 2010;

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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.

Number of displayed patient cases: 13
Avg age of onset in displayed cases: 8.7
Std dev in onset in displayed cases: 3.1

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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