Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy

2013 ◽  
Vol 15 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Massimo Mastrangelo ◽  
Angela Peron ◽  
Luigina Spaccini ◽  
Francesca Novara ◽  
Barbara Scelsa ◽  
...  
Keyword(s):  
Early Onset ◽  
Epileptic Seizures

FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation

1999 ◽  
Vol 46 (5) ◽  
pp. 708-715 ◽  
Author(s):  
Anne D. Sperfeld ◽  
Michael B. Collatz ◽  
Hartmut Baier ◽  
Markus Palmbach ◽  
Alexander Storch ◽  
...  
Keyword(s):  
Early Onset ◽  
Novel Mutation ◽  
Epileptic Seizures

scholarly journals Deficiency of cyclin-dependent kinase-like 5 causes spontaneous epileptic seizures in neonatal mice

2020 ◽  
Author(s):  
Wenlin Liao ◽  
Kun-Ze Lee ◽  
San-Hua Su ◽  
Yuju Luo
Keyword(s):  
Mouse Models ◽  
Early Onset ◽  
Epileptic Seizures ◽  
Cyclin Dependent Kinase ◽  
Serine Threonine Kinase ◽  
Gene Encoding ◽  
Linked Gene ◽  
Threonine Kinase ◽  
Spontaneous Seizures ◽  
Deficient Mice

AbstractCyclin-dependent kinase-like 5 (CDKL5), an X-linked gene encoding a serine-threonine kinase, is enriched in the mammalian forebrain and critical for neuronal maturation and synaptic function. Mutations in this gene cause CDKL5 deficiency disorder (CDD) that is characterized by early-onset epileptic seizures, autistic behaviors and intellectual disability. Although numerous CDD symptoms have been recapitulated in mouse models, spontaneous seizures have not been reported in mice with CDKL5 deficiency. Here, we present the first systematic study of spontaneous seizures in a mouse model of CDD. Through wireless electroencephalographic (EEG) recording and simultaneous videotaping, we observed epileptiform discharges accompanied with ictal behaviors in pups lacking CDKL5 at a selective time window during the pre-weaning period. The seizure-like patterns of EEG showed robust increase in total number of spike events, the total number and duration of bursts in Cdkl5 null pups compared to wild-type littermate controls at the age of postnatal day 12 (P12). The mutants displayed not only jerky and spasm-like movements during the prolonged bursts of discharges at P12, but also strengthened ictal grasping in both juvenile stage and adulthood. In addition, loss of CDKL5 remarkably reduced the phosphorylation of K+/Cl- co-transporter 2, which may impede GABA-mediated inhibition, in the cortex of P12 mouse pups. Our study reveals previously unidentified phenotypes of early-onset seizures in CDKL5-deficient mice, highlights the translational value of mouse models of CDD and provides a potential molecular target for early diagnosis and treatment for CDD.Significance StatementCyclin-dependent kinase-like 5 (CDKL5) is an X-linked gene encoding a serine-threonine kinase. Mutations in this gene cause CDKL5 deficiency disorder (CDD), a rare disease characterized by developmental delays, autistic behaviors and early-onset epilepsy. Even though many symptoms of CDD patients have been phenocopied in mice, spontaneous seizures are yet to be reported in mouse models of CDD. Here, for the first time, we identified early-onset seizures and ictal behaviors in neonatal pups of CDKL5-deficient mice. Loss of CDKL5 also selectively reduced protein levels of phosphorylated K+/Cl-cotransporter 2 in neonatal cortex of mice. Our study reveals an indispensible role of CDKL5 in regulating neuronal excitability in developing brains and highlights the translational significance of the CDD mouse models.

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

2018 ◽  
Vol 40 (9) ◽  
pp. 768-774 ◽  
Author(s):  
Pauline Marzin ◽  
Cyril Mignot ◽  
Nathalie Dorison ◽  
Louis Dufour ◽  
Dorothée Ville ◽  
...  
Keyword(s):  
Movement Disorders ◽  
Early Onset ◽  
Epileptic Seizures

A New Italian Pedigree with Early-Onset Alzheimer's Disease

1994 ◽  
Vol 7 (1) ◽  
pp. 28-32 ◽  
Author(s):  
Innocenzo Rainero ◽  
Lodovico Bergamini ◽  
Amalia Cecilia Bruni ◽  
Luigi Ferini-Strambi ◽  
Jean-François Foncin ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Psychiatric Symptoms ◽  
Memory Loss ◽  
Epileptic Seizures ◽  
Index Patient ◽  
The United States ◽  
The North ◽  
Early Onset Alzheimer’S Disease

We have recently discovered in Torino (Italy) a new pedigree with early-onset Alzheimer's disease. The index patient is a woman who, at the age of 43 years, showed progressive memory impairment and ideomotor apraxia. Several relatives of the patient have had a history of dementia. The ancestors of the patient were from Calabria (southern Italy) and members of the family emigrated to the north of Italy, to France, and to the United States. Up to now, the new kindred comprises 1950 members, distributed in eight generations. Thirty members affected with Alzheimer's disease have been identified. Neuropathologic confirmation of antemortem clinically diagnosed Alzheimer's disease has been achieved for one patient. The pedigree is consistent with autosomal dominant inheritance. The clinical course of the disease is fairly uniform: the first symptom is memory loss, beginning around age 40 years. Psychiatric symptoms like hallucinations and delusions follow. At a later stage of the disease, several patients developed myoclonus and generalized epileptic seizures and even-tually died with profound dementia. The “Torino family” shows several genealogic and clinical similarities with other large multigenerational familial Alzheimer's disease pedigrees originating from the Calabria region.

Pulmonary Edema and Simultaneous Cardiac Dysfunction After Epileptic Seizures

2013 ◽  
Vol 40 (06) ◽  
pp. 896-897
Author(s):  
V. Pelliccia ◽  
C. Pizzanelli ◽  
S. Pini ◽  
P. Malacarne ◽  
U. Bonuccelli
Keyword(s):  
Pulmonary Edema ◽  
Cardiac Dysfunction ◽  
Epileptic Seizures

Association of vitamin D receptor genotypes with early onset rheumatoid arthritis

2001 ◽  
Vol 28 (1) ◽  
pp. 89-93 ◽  
Author(s):  
J. R. Garcia-Lozano ◽  
M. F. Gonzalez-Escribano ◽  
A. Valenzuela ◽  
A. Garcia ◽  
A. Nunez-Roldan
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Early Onset
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