Table 7 Patients with no neurological symptoms
Patient number/Gender | Sibship | Date of birth | Age at diagnosis | Age at last FU (y, m)/deatha | Neonatal LD | HS/S | Seizures/cataplexy | VSGP | Dev. delay/cognitive problems | Ataxia | Swallowing problems | Psychiatric disturbance | Slurred speech | Genetic mutations |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
133/M | – | 2010 | 4 m | 6 m | Yes | No | No | No | No | No | No | No | – | – |
134/M | – | 2010 | 8 m | 8 m | Yes | – | – | – | – | – | – | – | – | c.3182 T > C(p.Ile1061Thr)/? |
135/M | – | 2010 | 1y | 1y | Yes (LTx) | Yes | No | No | No | No | No | No | No | – |
136/M | – | 2006 | 6 m | 2y 5 m | PJ LD | <4y | No | No | No | No | No | No | No | c.3182 T > C (p.Ile1061Thr)/c.3182 T > C (p.Ile1061Thr) |
137/M | – | 2003 | 2y6m | 6y 1 m | No | Yes | No | No | No | No | No | No | No | c.3182 T > C (p.Ile1061Thr)/c.3467A > G (p.Asn1156Ser) |
138/M | – | 2009 | 4 m | 2y 1 m | PJ LD | Yes | No | No | No | No | No | No | No | c.3182 T > C (p.Ile1061Thr)/? |
139/M | t | 2010 | <1y | 1y | Yes | Yes | No | No | No | No | No | No | No | c.3182 T > C (p.Ile1061Thr)/c.3289G > A (p.Asp1097Asn) |
140/M | t | 2006 | – | 5y | No | No | No | No | No | No | No | No | No | c.3182 T > C (p.Ile1061Thr)/c.3289G > A (p.Asp1097Asn) |
141/F | s | 1971 | 1y5m | 36y 8 ma | PJ LD | Birth | No | No | Yes | No | No | No | No | c.2336del (p.Phe779SerfsX2)/c.2621A > T (p.Asp874Val) |
142/F | – | 2008 | 2y5m | 3y | Yes | Yes | No | No | No | No | No | No | No | c.3182 T > C (p.Ile1061Thr)/c.3259 T > C (p.Phe1087Leu) |
143/M | – | 1987 | 16y | 20y 10 ma | PJ | Birth | No | No | No | No | No | No | No | c.2621A > T (p.Asp874Val)/c.3591 + 4 delA |
144/M | – | 2007 | 1y9m | 4y | No | Yes | No | No | No | No | No | No | No | – |
145/M | – | 2009 | 4 m | 2y | Yes | Yes | No | No | No | No | No | No | No | – |
146/F | – | 2004 | 7 m | 4y 11 ma | PJ | Yes | No | No | No | No | No | – | No | c.3083-3084delP.Gly1028AlafsX22)/c.2201G > T(p.Ser734Ile) |