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

• Epilepsy

  TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. Epilepsy Res. 2013;105:240–4. [ncbi.nlm.nih.gov]

  It is interesting that mutations in KCNT1 also determine another form of epilepsy – nocturnal frontal lobe epilepsy type 5. [intechopen.com]

  Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [genecards.org]

  A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ... [scholar.google.com]

• Disability

  A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ... [scholar.google.com]

  Case report: novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. F1000Res. 2017;6:553. [ncbi.nlm.nih.gov]

  Severe movement disability with tetraparesis was formed in all of the children with MMPSI. [intechopen.com]

• Developmental Delay

  PloS one 8 (7), e68287, 2013652013De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations MRF Reijnders, V Zachariadis, B Latour, L Jolly, GM Mancini, R Pfundt, .. [scholar.google.com]

  This form causes a rough developmental delay in infants, but without video-EEG monitoring, it remains unrecognized [20]. 7. [intechopen.com]

• 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]

• Hearing Impairment

  A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. Hum Mutat. 2014;35:814–8. [PubMed: 24729547] [ncbi.nlm.nih.gov]

• Downturned Corners of the Mouth

  Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. [genecards.org]

• Behavior Problem

  Molecular psychiatry 23 (8), 1773-1786, 2018342018Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems R Kumar, MA Corbett, BWM Van Bon, A Gardner, JA Woenig, LA Jolly, ... [scholar.google.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]