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. 2023 Nov 11;59:431–438. doi: 10.1016/j.jdsr.2023.11.001

Table 1.

Major diseases associated with decreased KCC2 expression.

Disease Symptoms Cause Ref
Autism spectrum disorder Impaired social communication, restricted interests, stereotypies Unknown (congenital abnormalities in brain function) 43
(Rett Syndrome) Autism, epilepsy, ataxic gait, peculiar stereotypic movements (firming movements) MECP2 gene mutation 34
(Angelman syndrome) Epilepsy, shows clumsiness and laughs a lot at trifles Loss of UBE3A gene 44
Mood disorders
(depression, bipolar disorder)
Intense sadness, lack of motivation,
difficulty sleeping, getting tired easily, feeling sluggish
Unknown cause (stress) 45
Epilepsy Seizures, such as convulsions or loss of consciousness Brain trauma, encephalitis, encephalopathy, meningitis, cerebral infarction, stress 10
Schizophrenia Delusions, hallucinations, disorganized thinking, extremely disorganized or abnormal motor behavior, lose interest in everyday activities, socially withdraw Unknown cause (stress) 12
Stroke Paralysis of arms and face, inability to speak properly, dizziness, headache, unconsciousness Arteriosclerosis caused by
hypertension, hyperlipidemia, diabetes, smoking
9
Down syndrome Flattened face, short neck, mental impairment,
distraction, obsessive behaviors.
21 trisomy 46
Huntington's disease Involuntary movements such as chorea, psychiatric
symptoms, behavioral disorders, cognitive impairment
Huntingtin gene mutation 47
Diabetes Increased blood sugar level, thirst, polydipsia, polyuria, malaise, weight loss, urinary sugar Lifestyle habits such as overeating (especially high-fat diet), lack of exercise, obesity, stress, and aging 48
Spinal cord injury Paralysis due to damage to the spinal cord Traffic accident, fall 49
Neuropathic pain Electric pain, stabbing pain, constricting pain,
numbness pain, allodynia
Nerve compression, injury, phantom limb pain, post-herpetic neuralgia, diabetes 50