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. 2020 Sep 16;10:15205. doi: 10.1038/s41598-020-72101-8

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.