Seizures and EEG pattern in Kabuki syndrome

Lodi, Monica; Chifari, R.; Parazzini, Cecilia; Viri, Maurizio; Beccaria, Francesca; Lorenzetti, Maria Elena; Meloni, Marta; Capovilla, Giuseppe; Romeo, Antonino

doi:10.1016/j.braindev.2009.12.006

Cited by 20 publications

(18 citation statements)

References 23 publications

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“…There is an overlap in clinical phenotypes associated with Kabuki syndrome and holoprosencephaly including feeding difficulties, microcephaly, hypotonia, developmental delay, and seizures. This overlap may lead to a more severe clinical presentation as the patient had a head circumference at 2 years of age 38.7 cm (−6 SD ), has more severe hypotonia than normally found in Kabuki syndrome, and presented with seizures at a much younger age than typically reported in Kabuki syndrome (Lodi et al, ). Diabetes insipidus has also been reported in Kabuki syndrome, but very rarely as there are only three other reported cases (Ito et al, ; Kittayalaksakun, Suttipong, & Srivuthana, ; Tawa et al, ).…”

Section: Discussionmentioning

confidence: 99%

Holoprosencephaly in Kabuki syndrome

Daly

Roberts

Yang

et al. 2019

American J of Med Genetics Pt A

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Kabuki syndrome is a rare, multi‐systemic disorder of chromatin regulation due to mutations in either KMT2D or KDM6A that encode a H3K4 methyltransferase and an H3K27 demethylase, respectively. The associated clinical phenotype is a direct result of temporal and spatial changes in gene expression in various tissues including the brain. Although mild to moderate intellectual disability is frequently recognized in individuals with Kabuki syndrome, the identification of brain anomalies, mostly involving the hippocampus and related structures remains an exception. Recently, the first two cases with alobar holoprosencephaly and mutations in KMT2D have been reported in the medical literature. We identified a de novo, pathogenic KMT2D variant (c.6295C > T; p.R2099X) using trio whole‐exome sequencing in a 2‐year‐old female with lobar holoprosencephaly, microcephaly and cranio‐facial features of Kabuki syndrome. This report expands the spectrum of brain anomalies associated with Kabuki syndrome underscoring the important role of histone modification for early brain development.

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Section: Discussionmentioning

confidence: 99%

Holoprosencephaly in Kabuki syndrome

Daly

Roberts

Yang

et al. 2019

American J of Med Genetics Pt A

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“…Like the majority of previous cases described in the literature, our patient also had a normal MRI, posteriorly located unilateral epileptiform discharges and very rare seizures with one or two anticonvulsant drugs. Although the mechanisms of seizures in KS are not clear, it has been hypothesized previously that both EEG abnormalities and seizures depend on diffuse brain hyperexcitability rather than abnormalities of cerebral structure 15 .…”

Section: Case Reportmentioning

confidence: 98%

“…19 . Apart form these abnormalities, bilateral occipital polymicrogyria 18 , periventricular nodular heterotopia 6 , bilateral perisylvian polymicrogyria 20 , diffuse pachygyria 15 , and unilateral hippocampal atrophy 16 can undoubtedly be correlated with seizures. Like the majority of previous cases described in the literature, our patient also had a normal MRI, posteriorly located unilateral epileptiform discharges and very rare seizures with one or two anticonvulsant drugs.…”

Section: Case Reportmentioning

confidence: 99%

A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures

et al. 2016

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“…There are at least two series describing their seizure semiology and outcome 18 19. Most respond well to treatment.…”

Section: Genetic Syndromesmentioning

confidence: 99%

When the face says it all: dysmorphology in identifying syndromic causes of epilepsy

Dixit

Suri

2016

Pract Neurol

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Identifying the underlying cause of epilepsy often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. Epilepsy has many causes and a small but significant proportion of affected people have an identifiable genetic cause. Here, we discuss the role of genetic testing in adults with epilepsy, focusing on dysmorphic features noticeable on physical examination that might provide a strong clue to a specific genetic syndrome. We give illustrative examples of recognisable facial 'gestalt'. An astute clinician can recognise such clues and significantly shorten the process of making the underlying diagnosis in their patient.

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Seizures and EEG pattern in Kabuki syndrome

Cited by 20 publications

References 23 publications

Holoprosencephaly in Kabuki syndrome

Holoprosencephaly in Kabuki syndrome

A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures

When the face says it all: dysmorphology in identifying syndromic causes of epilepsy

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