Early infantile epileptic-dyskinetic encephalopathy due to biallelicPIGPmutations
نویسندگان
چکیده
منابع مشابه
Early infantile epileptic encephalopathy
Key-words Disease name / synonyms Definition / diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counselling Treatment Unresolved questions References Abstract Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the earliest form of agedependent encephalopathies, which include also West syndrome and Lennox-Gastau...
متن کاملEarly Infantile Epileptic Encephalopathy Panel
12/17 Clinical Features and Molecular Genetics: Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a severe form of epilepsy characterized by frequent tonic spasms with onset in the first months of life. EEG reveals suppression-burst patterns, characterized by highvoltage bursts alternating with almost flat suppression phases. Seizures are medically intractable...
متن کاملThe hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
AIM Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial dysmorphisms, severe delay with absent language, defective social interactions, and epilepsy. Abnormal movements in FOXG1 syndrome have often been mentioned but not characterized. METHOD We clinically assessed and analysed video recordings of e...
متن کاملEarly infantile epileptic encephalopathies
Epileptiform abnormalities contribute to progressive deterioration of cerebral function. Considered: Ohtahara Syndrome; Early myoclonic epileptic encephalopathy; West Syndrome; Dravet Syndrome; Myoclonic status in not progressive encephalopathies; CDKL5 encephalopaty. Ohtahara syndrome (OS) early infantile encephalopathy (EIEE). Most cases linked to cerebral malformations or very occasionally t...
متن کاملEpileptic Encephalopathy Due to BRAT1 Pathogenic Variants
Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2020
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000387