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Table 1 Clinical features of the patient with P361T variants in SLC6A1

From: Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

Patient ID  
Variant c.1081C > A (NM_001348250)
Protein change p.P361T
Origin De novo
Sex Female
Current age 6 years
Age at seizure onset 2 years
Seizure type at onset Absence and atonic
Seizure frequency at onset 10 times per day
Interictal EEG GSW, focal SW
Seizure outcome Seizure free
Duration before seizure free 3 years
MRI findings Normal
ADI-R RSI 24
ADI-R COM 14
ADI-R RRB 4
ADI-R abnormality of development at or before 36 months 5
ADOS SC 6
ADOS SA 14
Intellectual disability Severe ID
Language Speech delay
Behaviors and developmental skills Dysfunctional
Neuropsychological development Severer or profound retardation
Diagnosis Autism and generalized epilepsy
SIFT (score) Damaging (0.0)
Polyphen2 (score) Probably damaging (1.0)
Mutation Taster (score) Disease causing (1)
Frequency in gemomeAD_exome
Frequency in ExAC
Frequency in ExAC (East Asian)
Frequency in 1000 genomes
  1. ADI-R Autism Diagnostic Interview-Revised, ADOS Autism Diagnostic Observation Schedule; COM qualitative abnormalities in communication, EEG electroencephalography, GSW: generalized spike and slow wave, ID intellectual disability, MRI magnetic resonance imaging, RSI qualitative abnormalities in reciprocal social interaction, RRB restricted and repetitive behavior, SA social affect, SC social communication, SW spike and wave complex