PEHO syndrome: the endpoint of different genetic epilepsies

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

(2018) Michael S Nahorski et al.   BRAIN

Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication

(2017) Pavithra L. Chavali et al.   SCIENCE

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

(2016) Mikko Muona et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

(2016) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

(2016) Michael S. Nahorski et al.   BRAIN

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies

(2016) Pawel Gawlinski et al.   PEDIATRIC NEUROLOGY

Trans -Binding Mechanism of Ubiquitin-like Protein Activation Revealed by a UBA5-UFM1 Complex

(2016) Walaa Oweis et al.   Cell Reports

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

(2015) Michael S. Nahorski et al.   BRAIN

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

(2015) Sylvie Langlois et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Loss of PCLO function underlies pontocerebellar hypoplasia type III

(2015) M. Y. Ahmed et al.   NEUROLOGY

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Similar phenotypes of Girdin germ-line and conditional knockout mice indicate a crucial role for Girdin in the nestin lineage

(2012) Masato Asai et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Involvement of Girdin in the Determination of Cell Polarity during Cell Migration

(2012) Kei Ohara et al.   PLoS One

Precocious Puberty in Two Girls With PEHO Syndrome: A Clinical Feature Not Previously Described

(2011) Majid Alfadhel et al.   JOURNAL OF CHILD NEUROLOGY

Phenotypic spectrum associated with CASK loss-of-function mutations

(2011) U. Moog et al.   JOURNAL OF MEDICAL GENETICS

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

(2010) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

(2010) R. Salonen et al.   CLINICAL GENETICS