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Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.

Clin Genet. 2020 Mar;97(3):477-482. doi:10.1111/cge.13696. Epub 2020 Jan 15
Camille Desprairies 1 , Stéphanie Valence 2 , Hélène Maurey 3 , Suzette I Helal 4 , Sarah Weckhuysen 5 , Hala Soliman 6 , Heather C Mefford 7 , Myrtille Spentchian 1 , Delphine Héron 8 , Eric Leguern 9 , Caroline Nava 9 , Viviane Bouilleret 10 , Raffaella Moretti 11 , Cyril Mignot 9
Camille Desprairies 1 , Stéphanie Valence 2 , Hélène Maurey 3 , Suzette I Helal 4 , Sarah Weckhuysen 5 , Hala Soliman 6 , Heather C Mefford 7 , Myrtille Spentchian 1 , Delphine Héron 8 , Eric Leguern 9 , Caroline Nava 9 , Viviane Bouilleret 10 , Raffaella Moretti 11 , Cyril Mignot 9
+ et al

[No authors listed]

Author information
  • 1 APHP, Département de Génétique, GH Pitié-Salpêtrière, Paris, France.
  • 2 APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.
  • 3 APHP, Service de Neuropédiatrie, CHU de Bicêtre.
  • 4 Department of Research of Children with Special Needs, Medical Division, National Research Centre, Cairo, Egypt.
  • 5 Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • 6 Molecular genetics Department, Human Genetics & Genome Research Division, National Research Centre, Cairo, Egypt.
  • 7 Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
  • 8 Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme", Sorbonne Université, Paris, France.
  • 9 Inserm U 1127, Institut du Cerveau et de la Moelle, GH Pitié Salpêtrière, Paris, France.
  • 10 APHP, Unité de neurophysiologie clinique et d'épileptologie, CHU de Bicêtre, Paris, France.
  • 11 APHP, Service de Neurophysiologie Clinique, Hôpital Trousseau, Paris, France.

摘要


Biallelic mutations in the PLCB1 gene, encoding for a phospholipase C beta isoform strongly expressed in the brain, have been reported to cause infantile epileptic encephalopathy in only four children to date. We report here three additional patients to delineate the phenotypic and genotypic characteristics of the disease. Our three patients were one sporadic case with an intragenic homozygous deletion and two cousins with the homozygous p.(Arg222*) nonsense variant in PLCB1. These patients had severe to profound intellectual disability, epileptic spasms at age 3-5 months concomitant with developmental arrest or regression, other seizure types and drug-resistant epilepsy. With this report, we expand the clinical, radiologic and electroencephalographic knowledge about the extremely rare PLCB1-related encephalopathy. Since the first report in 2010, the overall number of reported patients with our additional patients is currently limited to seven. All seven patients had epileptic encephalopathy, mainly infantile spasms and 6/7 had profound intellectual disability, with one only being able to walk. Truncal hypotonia was the most frequent neurological sign, sometimes associated with pyramidal and/or extrapyramidal hypertonia of limbs. Microcephaly was inconstant. In conclusion, the phenotypical spectrum of PLCB1-related encephalopathy is relatively narrow, comprises infantile spasms and severe to profound intellectual disability, and does not seem to define a recognizable clinical entity.

KEYWORDS: PLCB1 mutations, early onset epilepsy, epileptic encephalopathy, infantile spasms, intractable seizures