From: De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention
Disorders | OMIM | Implicated gene(s) | References |
---|---|---|---|
Alexander disease | #203450 | GFAP | Brenner et al., 2001 [73] |
Amyotrophic lateral sclerosis | #105400 | FUS, TDP-43, SOD1 | DeJesus-Hernandez et al., 2010 [74] |
Ataxia | #208920 | CACNA1A, TBP | Koide et al., 1999 [75] |
Autism spectrum disorders | #209850 | NLGN3, NLGN4, NRXN1, SHANK3, etc. | |
CADASIL | #125310 | NOTCH3 | Joutel et al., 2000 [76] |
Cerebral cavernous malformations | #116860 | KRIT1, CCM2, CMM3, PDCD10 | |
Charcot-Marie-Tooth disease | #606482 | >10 genes | Boerkoel et al., 2002 [79] |
Dejerine-Sottas | #145900 | PMP22 | Valentijn et al., 1995 [80] |
Dravet syndrome | #607208 | SCN1A | Claes et al., 2001 [81] |
Early-onset dementia | #600274 | PRNP, APP | |
Focal epilepsy | #300088 | SCN1A | Okumura et al., 2007 [84] |
Hemiplegic migraine | #141500 | ATPA2, CACNA1A | Riant et al., 2010 [85] |
Intellectual disability | #612621 | SYNGAP1 | Hamdan et al., 2009 [4] |
Neurofibromatosis type II | #162200 | NF1 | Viskochil et al., 1990 [86] |
Neurofibromatosis type II | #101000 | NF2 | Rouleau et al., 1993 [53] |
Rapid-onset dystonia Parkinsonism | #128235 | ATP1A3 | Post et al., 2009 [87] |
Rett syndrome | #312750 | MECP2, CDKL5 and netrin G1 | Amir et al., 1999 [44]; Weaving et al., 2004 [88]; Borg et al., 2005 [89] |
Schizophrenia | #181500 | SHANK3, NRXNs |