Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure. [medworm.com]

This loss will lead to system failures (eg heart failure, or digestive system failures) and these failures lead to death. [givealittle.co.nz]

Showing of 8 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Epileptic encephalopathy 0200134 Focal-onset seizure 0007359 Generalized-onset seizure 0002197 Hyperreflexia Increased reflexes [rarediseases.info.nih.gov]

By 12 months from presentation, one further patient had developed pyramidal tract signs with spasticity and hyperreflexia and seven were noted to have axial hypotonia. [academic.oup.com]

Most MPSI patients have gain-of-function mutations in KCNT1 making these channels hyperactive. Thus, pharmacologic inhibition of KCNT1 activity could be a rational strategy for designing specific anti-MPSI drugs. [cainlabs.texaschildrens.org]

MalaCards based summary : Malignant Migrating Partial Seizures of Infancy, also known as malignant migrating partial epilepsy of infancy, is related to epileptic encephalopathy, early infantile, 6 and encephalopathy, and has symptoms including clonus [malacards.org]

[…] sporadic hemiplegic migraine Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation Generalized epilepsy with febrile seizures-plus context Lennox-Gastaut syndrome Progressive myoclonic epilepsy with dystonia Dominant hypophosphatemia with nephrolithiasis [csbg.cnb.csic.es]

The sodium-activated potassium channel Slack is modulated by hypercapnia and acidosis. Neuroscience 151, 410–418 (2008). 24. Brown, M.R. et al. Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack. [nature.com]

Additional neuropathological findings included bilateral hippocampal gliosis and neuronal loss in two patients who had post-mortem examinations. Within this cohort, we identified two patients with mutations in the newly discovered KCNT1 gene. [kclpure.kcl.ac.uk]

[…] unusually small head size), intellectual disability and a shortened lifespan (many do not survive past infancy or early childhood). 0002376 Epileptic encephalopathy 0200134 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Gliosis [rarediseases.info.nih.gov]

Microscopy revealed subpial (Chaslin’s) gliosis but no cortical dysplasia. Both hippocampi showed neuronal loss and gliosis in the CA4 region on both sides and possibly extending into CA3, but CA2 and CA1 were well preserved. [academic.oup.com]

biopsy for mitochondrial disorders 18 cases CSF neurotransmitters tested (no.) 6 cases SCN1A gene tested 22 cases (3 have mutations) Microarray 16 cases (2 abnormal) OFC occipitofrontal circumference; SUDEP sudden unexpected death in epilepsy. [academic.oup.com]