Table 3.
Phenotypic characteristics of individuals with PNES and deleterious genetic variants.
ID | Sex | Identified variant (ACMG-AMP classification) | Age | Age at PNES onset | Cognition/neuro exam | MRI | Febrile seizures | Medical comorbidities | Psychiatric comorbidities | FH of seizures | FH of psychiatric disease |
---|---|---|---|---|---|---|---|---|---|---|---|
PNES1 | Male | Pathogenic | 33 | 33 | Normal/normal | Normal | No | Migraine, chronic pain | Mood disorder | No | No |
PNES2 | Male | Pathogenic | 59 | 55 | Normal/normal | Normal | No | HTN, DM, HPL, COPD, OSA, CAD/CHF, CKD | None | No | No |
PNES3 | Female | Pathogenic | 33 | 30 | Normal/normal | Unknown | No | None | Anxiety, PTSD | No | Yes—PTSD, anxiety |
PNES4 | Male | Likely pathogenic | 58 | 12 | Normal/normal | Normal | No | HTN, OSA | Mood disorder | No | No |
PNES5 | Female | Pathogenic | 50 | 50 | Normal/normal | Normal | No | Hypothyroidism | Mood disorder, anxiety | Yes—aunt | Yes—mood disorder |
PNES6 | Female | Likely pathogenic | 45 | 40 | Normal/normal | Normal | No | HTN, HPL, CAD, CVD | Mood disorder, anxiety, PTSD | No | No |
PNES7 | Female | Uncertain significance | 39 | 34 | Normal/normal | Normal | No | Migraine, HTN, DM, OSA, PCOS, optic neuritis | Mood disorder, anxiety | No | Yes—mood disorder, OCD |
PNES8 | Female | Uncertain significance | 50 | 50 | Normal/normal | Normal | No | Migraine, HPL | Anxiety | No | No |
PNES9 | Female | Uncertain significance | 48 | 28 | Normal/normal | Mild chronic microvascular disease | No | DM, OSA, IBS, CVD | Mood disorder, anxiety | No | No |
PNES10 | Female | Uncertain significance | 43 | 7 | Normal/normal | Mild chronic microvascular disease | No | Migraine, DM, CKD, OSA, hypothyroidism | Mood disorder, anxiety | Yes—MGM | No |
PNES11 | Female | Uncertain significance | 26 | 15 | Normal/normal | Normal | No | Migraine, chronic pain | Mood disorder, anxiety, PTSD | Yes—MGF | Yes—mood disorder, anxiety |
PNES12 | Male | Uncertain significance | 53 | 51 | Normal/normal | Normal | No | None | Mood disorder | Yes—mother | No |
HTN: hypertension, DM: diabetes mellitus, HPL: hyperlipidemia, COPD: chronic obstructive pulmonary disease, CAD: coronary artery disease, CHF: congestive heart failure, CKD: chronic kidney disease, OSA: obstructive sleep apnea, PTSD: post-traumatic stress disorder, Mood Disorder: depression or bipolar disorder, CVD: cerebrovascular disease, PGF: paternal grandfather, PCOS: polycystic ovarian syndrome, OCD: obsessive–compulsive disorder, MGF: maternal grandfather, MGM: maternal grandmother, IBS: irritable bowel syndrome.