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8 patient data entries in database for mutations W748S,Q497H.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
457R852C1
W748S5
Q497H2
E1143G
Alpers/ Alpers–Huttenlocher.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/an/aSofou et al, 2013;

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478G848S1
Q497H2
W748S5
E1143G
The index patient presented at the age of 8 months with microcephaly, seizures, and developmental delay. From the time of the first observation she rapidly developed epilepsia partialis continua, multifocal myoclonic jerks, and progressive psychomotor retardation. MRI performed at 8 months was generally unremarkable. By 9 months of age the brain MRI showed signifi cant changes including a diffuse severe cerebral and cerebellar atrophy involving gray and white matter.
-epilepsia partialis
-cerebellar atrophy
-developmental delay
-retardation
-microcephaly
infantile
n/a0.61Brunetti-Pierri et al, 2008;

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479G848S1
Q497H2
W748S5
E1143G
He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
-intractable seizure
-epilepsia partialis
-encephalopathy
infantile
0.51.25n/aBrunetti-Pierri et al, 2008;

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480G848S1
Q497H2
W748S5
E1143G
He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
-intractable seizure
-epilepsia partialis
-encephalopathy
infantile
0.51.25n/aBrunetti-Pierri et al, 2008;

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593W748S5
Q497H2
E1143G
W748S5
Q497H2
E1143G
Ataxia, sensory ataxia, dysarthria, nystagmus, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. This man presented at age 26 with unsteadiness. Examination showed an ataxic gait, cerebellar dysarthria, myoclonic jerks of his head and facial muscles, mild limitation of horizontal eye movement, and horizontal nystagmus in the direction of gaze, with an additional vertical element when looking down. There were distal amyotrophy, absent reflexes in the legs, and a symmetric loss of all sensory modalities below the knee. Romberg’s test was positive. Episodes of depression. At age 31 he has an almost complete ophthalmoplegia, cerebellar dysarthria, myoclonus involving face and arms, truncal ataxia, and symmetric dysmetria.
-myoclonic seizures
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-ophthalmoplegia
-dysarthria
-nystagmus
adult
2338n/aWinterthun et al, 2005;

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594W748S5
Q497H2
E1143G
W748S5
Q497H2
E1143G
Headaches, a focal epilepsy with secondary generalisation, occipital epilepsy, dysarthria, nystagmus, cognitive dysfunction. Demyelinating neuropathy, axonal neuropathy. headaches preceded by visual symptoms, nausea, vomiting, and unsteadiness diagnosed as migraine. Shortly after, she had the first of a series of tonic-clonic seizures preceded by headache. Examination showed horizontal and vertical nystagmus, gait ataxia.
-epilepsy
-movement disorder (ataxia)
-demyelinating neuropathy
-headache/ migraine
-vomiting
-dysarthria
-nystagmus
juvenile
1518n/aWinterthun et al, 2005;

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627Q497H2
W748S5
E1143G
A467T2
Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay
-movement disorder (ataxia)
-developmental delay
-dementia
-hearing loss
juvenile
17n/an/aWong et al, 2008;

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641G848S1
Q497H2
W748S5
E1143G
developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome.
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
1n/an/aWong et al, 2008;

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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: 8
Avg age of onset in displayed cases: 8.2
Std dev in onset in displayed cases: 9.0

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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