Table 2. History and examination findings for individual KCNJ11 cases and INS controls.
| Case (mutation) | HISTORY | EXAMINATION / INVESTIGATIONS | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Developmental milestones / interventions | Seizures (cause, if known) | Educational attainment | Learning difficulties / support | Employment status (job) | Employment status (job) of parents / siblings | Psychiatric history | Neurological examination | Brain MRI | |
| KCNJ11 1 (G53S) | D (speech and motor) | No | MS then SS (age 11) | LS (repeated year 2) | E (supermarket) | F – E (council), S – E (chemicals factory) | Repetitive hand washing and rigid routines. | Impaired motor sequencing, fine finger movements, praxis. Subtle nystagmus, dysdiadokokinesis. | ND |
| KCNJ11 2 (R201H) | D (speech) | No | MS then U (nursing and childcare) | LS (English until age 15, Maths for 1 year) | US | F – E (accountant) M – E (nurse) | Nil | Intermittent mild head titubation. Brisk reflexes, questionable increase in tone in left arm. | N |
| KCNJ11 3 (R201H) | N | Yes – hypoglycaemia on insulin | MS then C (18 months, NVQs levels 1 &2) | LS (English and Maths). | E (baker) | NK | Nil | Normal | Bilateral high T1 signal in pons – artefact |
| KCNJ11 4 (R201C) | N | Yes | MS then C (computing module) | LS (throughout school) | E (pubs, shops, hotel) | B – E (operations manager), S – E (sports complex manager) | Depression – Sertraline 50mg. Occasional auditory hallucinations. | Nystagmus (2-3 beats on horizontal gaze), subtle intention tremor. | N |
| KCNJ11 5 (R201C) | D (gross motor, speech).Speech therapy. | Yes – hypoglycaemia on insulin | MS then C (for people with ID) | LS (from age 10). | CS (college for people with ID). | F – E (company manager), M - UE (housewife), B – E (aviation engineer), B – US (political science) | Anxiety (social skills training by psychologist) | Impaired motor sequencing. | ND |
| KCNJ11 6 (V252G) | D (speech, fine motor). Speech therapy. | No | SS then school for autistic children | Unable to read/write. Supported accommodation. | UE | B – E (carpenter) | Autism | Impaired motor sequencing, praxis, heel-toe walking. Hand-flapping. | ND |
| KCNJ11 7 (V59M) | Speech therapy. | Yes – hypoglycaemia on insulin | MS then C (1st year - childcare) | LS (throughout school) | E (SS teaching assistant) | M – E (SS teaching assistant), F – E (lecturer), B – E (trainee lawyer) | Anxiety | Impaired motor sequencing, dysdiadokokinesis, choreiform movements. | N (movement artefact) |
| KCNJ11 8 (V59M) | D (global). | Yes – hypoglycaemia on insulin | SS | Unable to read/write. | UE | S – E (museum curator) | Autism | Ritualistic, clumsy, echolalia. Generally uncooperative with examination. | ND |
| INS 1 (C43F) | N | Yes | U (pharmacy degree) | No | E (hospital pharmacist) | NK | Nil | Normal | ND |
| INS 2 (F48C) | N | Yes – hypoglycaemia | U (law degree) | No support. | UE (ill health). Clerical / carer jobs in past | F – E (taxi business manager, security guard) | Depression (medication and CBT in the past), OCD | Depressed leg reflexes (in-keeping with known diabetic neuropathy). | Left temporal lobe abnormality – CSF space or artefact |
| INS 3 (G75C) | N | No | MS | No support. | E (dept. of work and pensions) | F – E (carpenter, transport manager), B – E (marketing agency) | Nil | N | N |
| INS 4 (H29D) | N | Yes – DKA | MS | LS (Maths & English 4 years). | E (bank call centre) | F – E (carpenter) | Anxiety, panic attacks (Escitalopram in the past) | N | Prominent left cerebellar sulcus, periventricular white matter lesions |
NK = not known, ND = not done, D=delayed, N=normal, MS = Mainstream school, SS = Special school, U = University, C = College, LS = learning support, E = employed, UE = unemployed, ID = intellectual disability, US = university student, CS = college student, OCD = obsessive compulsive disorder, DKA = diabetic ketoacidosis, F = father, M = mother, B = brother, S = sister