 Clinical features include coarse facial features, corneal clouding, hepatomegaly, skeletal dysplasia, and learning disability in addition to the myoclonus. 36.  EEG background shows low-voltage fast activity, but slowing can be seen in patients with [slideshare.net]

 Patients with onset before age 20 years often present with the phenotype of PME, characterised by ataxia, seizures, myoclonus, and progressive intellectual deterioration. 39.  caused by unstable expansion of CAG repeats of a gene at 12p13.31.  MRI [slideshare.net]

Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome  age of onset with ataxia at 4–5 years.  Myoclonus starts at 5–10 years with a mean at 7 years.  Impaired up-gaze.  The intellect is usually preserved an neuroimaging studies are normal [slideshare.net]

ORPHA:435438 Classification level: Disorder Synonym(s): EPM7 MEAK Myoclonus epilepsy and ataxia due to potassium channel mutation PME type 7 Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonus epilepsy type 7 Prevalence: 1 / 1 [orpha.net]

[…] to Progressive Myoclonus Epilepsy 7: # Title Authors PMID Year 1 Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. 61 Kim H...Lim BC 29428275 2018 2 Myoclonus epilepsy and ataxia [malacards.org]

Heritability: Autosomal dominant inheritance Clinical Modifiers: Progressive AKA: progressive myoclonus epilepsy type 7, progressive myoclonic epilepsy due to KV3.1 deficiency, meak, KCNC1 progressive myoclonic epilepsy, EPM7, myoclonus epilepsy and ataxia [monarchinitiative.org]

Also known as: EPM7, MEAK, Myoclonus epilepsy and ataxia due to potassium channel mutation, PME type 7, Progressive myoclonic epilepsy due to KV3.1 deficiency, Progressive myoclonus epilepsy type 7 Clinical Healthcare providers that have indicated some [rarediseases.oscar.ncsu.edu]

Myoclonic seizures begin in early childhood, and patients exhibit multiple seizure types including: generalized tonic clonic seizures, absence seizures, and drop attacks. [preventiongenetics.com]

 Characteristically, visual seizures are the first manifestation, followed by generalized tonic–clonic seizures, absences, or drop attacks.  Visual seizures present as transient blindness, simple or complex visual hallucinations.  Myoclonus is often [slideshare.net]

Patients 1, 2, 4 and 7 had drop attacks beginning around the age of 13 or 14 years. Generalized tonic clonic seizures were documented in all except Patient 2. [academic.oup.com]

Late infantile Finnish variant NCL  A variant of late infantile NCL  Onset is later, at around age 5 years, and includes symptoms of clumsiness and hypotonia.  Followed by visual impairment : 5–7 years, ataxia : 7–10 years, Myoclonic and tonic-clonic [slideshare.net]

These seizures can be mistaken for tics, tremors or clumsiness. How are myoclonic seizures diagnosed? The seizures themselves are easy to identify. The syndromes usually can be diagnosed on the basis of the medical history and often an EEG test. [epilepsy.com]

 Within a few months, ataxia and psychomotor regression appear, whereas visual failure develops later.  Dementia and spasticity are relentlessly progressive, with death occurring about 5 years after onset. 14.  EEG - posterior spikes in response [slideshare.net]

뇌와 피부의 조직검사에서 ceroid와 lipofuscin에 동시에 조직화학적 양성반응를 보이며 autofluorescent를 보이는 세포질봉입체 (cytoplasmic inclusion body) 을 관찰할 수 있습니다. 뇌자기공명영상에서 백질의 미만성 고강도 신호 (diffuse hyperintensity)가 T2 강조 영상에서 관찰되기도 합니다. [www.mediup.co.kr]

Lafora Body Disease  The characteristics of LBD include:  generalized tonic–clonic seizures (GTCS),  resting and action myoclonus,  ataxia,  dementia,  polyspike and wave discharges in the electroencephalogram (EEG)  basophilic cytoplasmic inclusion [slideshare.net]