Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion

2017 ◽  
Vol 19 (2) ◽  
pp. 222-225
Author(s):  
Roberta Milone ◽  
Angelo Valetto ◽  
Veronica Bertini ◽  
Federico Sicca
Keyword(s):  
Infantile Seizures ◽  
Autistic Regression

scholarly journals Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

2021 ◽  
Vol 22 (6) ◽  
pp. 2824
Author(s):  
Jan H. Döring ◽  
Julian Schröter ◽  
Jerome Jüngling ◽  
Saskia Biskup ◽  
Kerstin A. Klotz ◽  
...  
Keyword(s):  
Neurological Disorders ◽  
Transmembrane Domain ◽  
Potassium Conductance ◽  
Epileptic Encephalopathy ◽  
Clinical Spectrum ◽  
The Novel ◽  
Developmental Abnormalities ◽  
Pathogenic Variants ◽  
Infantile Seizures ◽  
Early Developmental

Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopathy, intellectual disability, and movement disorders resulting from cerebellar dysfunction. In addition, individuals with a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia have been reported. By analyzing phenotypic, functional, and genetic data from published reports and novel cases, we refine and further delineate phenotypic as well as functional subgroups of KCNA2-associated disorders. Carriers of variants, leading to complex and mixed channel dysfunction that are associated with a gain- and loss-of-potassium conductance, more often show early developmental abnormalities and an earlier onset of epilepsy compared to individuals with variants resulting in loss- or gain-of-function. We describe seven additional individuals harboring three known and the novel KCNA2 variants p.(Pro407Ala) and p.(Tyr417Cys). The location of variants reported here highlights the importance of the proline(405)–valine(406)–proline(407) (PVP) motif in transmembrane domain S6 as a mutational hotspot. A novel case of self-limited infantile seizures suggests a continuous clinical spectrum of KCNA2-related disorders. Our study provides further insights into the clinical spectrum, genotype–phenotype correlation, variability, and predicted functional impact of KCNA2 variants.

The patient with infantile seizures

2011 ◽  
Vol 23 (6) ◽  
pp. 693-699
Author(s):  
Lea K. Parsley ◽  
Janet A. Thomas
Keyword(s):  
Infantile Seizures

scholarly journals A.02 Clinical clues for autoimmunity in the etiology of autistic regression

2016 ◽  
Vol 43 (S2) ◽  
pp. S7-S7
Author(s):  
H Goez ◽  
O Scott ◽  
D Shi ◽  
D Andriashek ◽  
B Clark
Keyword(s):  
Autoimmune Thyroiditis ◽  
Febrile Illness ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Type I ◽  
Perinatal Complications ◽  
Autoimmune Conditions ◽  
History Of ◽  
Autistic Regression ◽  
Immune Changes

Background: Autistic regression (AR) accounts for 20-40% of patients with Autism Spectrum Disorder (ASD) .1 Literature demonstrates specific immune changes in AR patients,2 as well as association between AR and autoimmune thyroiditis.3 Our study explores the clinical association between AR and autoimmunity, focusing on possible precipitants and familial autoimmunity, in comparison with patients with infantile autism (IA). Methods: charts of children diagnosed with ASD in 2014 were reviewed, and patients were classified as either AR or IA based on Autism Diagnostic Interview (ADI-R) criteria.4 Information regarding pregnancy, perinatal complications, febrile illness preceding the diagnosis, and family history of autoimmune conditions was collected. Results: 206 children had IA and 33 had AR. No difference was found in prevalence of pregnancy or perinatal complications. The incidence of febrile illness in the 6 months prior to diagnosis and the prevalence of familial autoimmunity, were significantly higher in the AR group (p<0.001). Diabetes type I, celiac disease, autoimmune thyroiditis, and inflammatory bowel disease were more common in families of AR patients (p<0.05). Conclusions: the association between AR and preceding febrile illness, as well as familial autoimmunity, supports the notion of AR as a separate entity within ASD, possibly mediated by autoimmune changes.

APRRT2variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction withSTX1B

Epilepsia ◽  
2018 ◽  
Vol 59 (8) ◽  
pp. 1621-1630 ◽  
Author(s):  
Hongying Ma ◽  
Shenglei Feng ◽  
Xuejun Deng ◽  
Li Wang ◽  
Sheng Zeng ◽  
...  
Keyword(s):  
Chinese Family ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Infantile Seizures

Autistic Regression in Relation to Limbic Pathology and Epilepsy: Report of Two Cases

2008 ◽  
Vol 35 (2) ◽  
pp. 166-176 ◽  
Author(s):  
Theirry Deonna ◽  
Anne-Lise Ziegler ◽  
Jaime Moura-Serra ◽  
Giorgio Innocenti
Keyword(s):  
Autistic Regression

GASTROINTESTINAL SYMPTOMS AND SEIZURES IN AUTISTIC REGRESSION.

2007 ◽  
Vol 55 (1) ◽  
pp. S82
Author(s):  
K. Angkustsiri ◽  
R. L. Hansen ◽  
S. Ozonoff ◽  
P. Krakowiak ◽  
C. Jones ◽  
...  
Keyword(s):  
Gastrointestinal Symptoms ◽  
Autistic Regression
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