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

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

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	–

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

ISSN: 1756-6606