Typical EEG pattern of MMPSI is presented in a series of electroencephalograms (Figures 1–7). [intechopen.com]

Health Conditions Related to Genetic Changes DOORS syndrome At least 10 mutations in the TBC1D24 gene have been identified in people with DOORS syndrome, a disorder involving multiple abnormalities that are present from birth (congenital). [medlineplus.gov]

• Cerebral Palsy

  Other ten children had severe perinatal hypoxic-ischemic CNS disturbances (four of them mixed with perinatal infections‑cytomegalovirus, ureaplasma, chlamydia, herpes type 1) that caused serious brain damage, tetraparetic spastic form of cerebral palsy [intechopen.com]

• Disproportionate Short Stature

  This peroxisomal disorder is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, micrognathia, dysplastic [intechopen.com]

• Heart Failure

  Kawasaki et al. described three infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure [16]. [intechopen.com]

• Neonatal Seizures

  (PMID: 31257402) Lüthy K … Guerrini R (Brain : a journal of neurology 2019) 3 4 72 Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. [genecards.org]

  Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. Am J Med Genet A. 2016;170:3207–14. [ncbi.nlm.nih.gov]

• Profound Intellectual Disability

  In a 5-year-old bedridden severe delayed and profound intellectual disabled Japanese boy by whole-exome sequencing, de novo previously not described mutation in SCN8A gene c.2537 T > C (p.Phe846Ser) was detected. [intechopen.com]

• Unable to Walk

  Many patients in dynamics are unable to walk and sit without support and in severe cases are also unable to control the vertical head position, drink, and swallow. In all cases, there is mental retardation, usually severe, and visual agnosia [3]. [intechopen.com]

• Clonus

  EEG pattern is localized in perirolandic area and manifests with contralateral clonus of the lips, tongue, facial muscles, and hypersalivation. [intechopen.com]

• Chlamydia

  Other ten children had severe perinatal hypoxic-ischemic CNS disturbances (four of them mixed with perinatal infections‑cytomegalovirus, ureaplasma, chlamydia, herpes type 1) that caused serious brain damage, tetraparetic spastic form of cerebral palsy [intechopen.com]

Treatment MMPSI is a drug-resistant epilepsy form with serious prognosis. Treatment approaches are still developing. Baseline, old, and new antiepileptic drugs in various combinations, as well as corticosteroids, are ineffective [1, 2, 3]. [intechopen.com]

MMPSI is a drug-resistant epilepsy with serious prognosis. [intechopen.com]

Etiology In most MMPSI cases, etiology remains unknown; familial cases are rare. In observation by Dulac, relatives in 3 of 24 patients had febrile convulsions, and 4 patients had family history of epilepsy [3]. [intechopen.com]