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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 
Variantc.1081C > A (NM_001348250)
Protein changep.P361T
OriginDe novo
SexFemale
Current age6 years
Age at seizure onset2 years
Seizure type at onsetAbsence and atonic
Seizure frequency at onset10 times per day
Interictal EEGGSW, focal SW
Seizure outcomeSeizure free
Duration before seizure free3 years
MRI findingsNormal
ADI-R RSI24
ADI-R COM14
ADI-R RRB4
ADI-R abnormality of development at or before 36 months5
ADOS SC6
ADOS SA14
Intellectual disabilitySevere ID
LanguageSpeech delay
Behaviors and developmental skillsDysfunctional
Neuropsychological developmentSeverer or profound retardation
DiagnosisAutism 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