Home Query References Browse Contact

19 patient data entries in database for mutations G848S and W748S.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
169G848S1
W748S5
E1143G
Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
6.5n/a7.8Taanman et al, 2009;

[view data]

170G848S1
W748S5
E1143G
Partial status epilepticus, epilepsia partialis, continua, hemiparesis, myoclonus, loss of vision, optical atrophy, pschomotor regression, liver dysfunction, death via pneumonia.
-status epilepticus
-myoclonic seizures
-hemiparesis
-epilepsia partialis
-liver dysfunction
-pschomotor regression
infantile
1n/a11Isohanni et al, 2011;

[view data]

171G848S1
W748S5
Headaches/migrains, seizures, intractable seizure, cortical blindness. 32% mtDNA copy number in blood.
-intractable seizure
-headache/ migraine
-cortical blindness
childhood
n/a7n/aTang et al, 2011;

[view data]

173G848S1
W748S5
Hypotonia, myoclonus, or myoclonic seizures, intractable seizure, hepatic failure, abnormal EEG. 38% mtDNA copy number in blood.
-myoclonic seizures
-intractable seizure
-liver failure
-hypotonic
childhood
n/a5n/aTang et al, 2011;

[view data]

174G848S1
W748S5
Reported as Alpers, onset at 6 years, presenting encephalopathy with epilepsy, hepatopathy absent, and movement disorder (ataxia).
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
6n/an/aAshley et al, 2008;

[view data]

237W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis.
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
0.1n/a0.9Davidzon et al, 2005;

[view data]

252W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
0.7n/a2.5Davidzon et al, 2005;

[view data]

253W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis,
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
1n/a6.5Davidzon et al, 2005;

[view data]

255W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, microvesicular steatosis, fibrosis
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
0.3n/a1Davidzon et al, 2005;

[view data]

257W748S5
E1143G
G848S1
Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic acidemia
-lactic acidosis
-status epilepticus
-intractable seizure
-liver dysfunction
-hypoglycemia
infantile
1n/a1.7Nguyen et al, 2005;

[view data]

287G848S1
W748S5
Developemental delay, status epilepticus onset at 6 years 7 months, valproic acid therapy 6 weeks, liver failure with transplant, epilepsia partialis continua, elevated CSF lactate, elevated CSF protein, mtDNA depletion in liver
-status epilepticus
-epilepsia partialis
-liver failure
infantile
6.67.8n/aWolf et al, 2009;

[view data]

288G848S1
W748S5
status epilepticus onset epilepsia partialis continua, elevated CSF lactate, elevated CSF protein,
-status epilepticus
-epilepsia partialis
childhood
10.67n/a11.5Wolf et al, 2009;

[view data]

312G848S1
W748S5
seizure onset at 2 years, complex partial seizure and epilepsia partialis continua myoclonus, Truncal ataxia, intention tremor
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-tremor
infantile
24n/aSaneto et al, 2010;

[view data]

316G848S1
W748S5
Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
2n/a6.33Hunter et al, 2011;

[view data]

317G848S1
W748S5
Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
childhood
6n/a6.75Hunter et al, 2011;

[view data]

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;

[view data]

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;

[view data]

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;

[view data]

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;

[view data]

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: 19
Avg age of onset in displayed cases: 3.1
Std dev in onset in displayed cases: 3.1

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
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: