Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations

CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy.

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...

Early 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...

CDKL5 mutations in early epileptic encephalopathy and in atypical forms of Rett syndrome

Rett syndrome (RTT, MIM #312750) is a neurodevelopmental disorder defined by a distinct set of clinical features, notably a regression that robs the affected individuals of spoken language and volitional hand use [1]. Additionally, affected people develop characteristic hand stereotypies that are classically wringing or washing in nature, although they make take on a variety of forms such as cl...

Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.

1MD, Faculdade Evangélica do Paraná, Curitiba PR, Brazil; 2MD, Medical Genetic Service, Hospital de Clínicas de Porto Alegre RS, Brazil; 3MD, PhD, Neurophysiologist, Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba PR, Brazil; 4MD, PhD, Medical Genetic Service, Hospital de Clínicas de Porto Alegre RS, Brazil; 5MD, PhD, Group for Ad...