Symptoma

Infantile Convulsions and Choreoathetosis

ICCA Syndrome

Genetic counseling ICCA syndrome can present as sporadic or familial; in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within the same family. [orpha.net]

Since the first report similar clinical presentations have been published which confirm the specificity of the ICCA syndrome. [en.wikipedia.org]

On the opposite side of the spectrum, the group of benign epilepsy syndromes presented in this book is clearly more prevalent in childhood than the intractable epilepsies. [books.google.com]

Abstract We reported a 15-year-old boy with idiopathic hypoparathyroidism who presented with paroxysmal kinesigenic choreoathetosis at age 10. Calcium levels were low and intact parathyroid hormones were undetectable in serum. [wwww.unboundmedicine.com]

  • Hunting

    The frequency of P occurring together with L and p occurring together with l is greater than that of the recombinant Pl, the understanding of linkage was expanded by the work of Thomas Hunt Morgan. [wikivisually.com]

  • Facial Grimacing

    These episodes were described soon after choreoatheoid posturing of both upper extremities and facial grimacing. At rest, she would first experience brief premonitory sensations of “movement” in both shoulders. [doi.org]

  • Abnormal Involuntary Movement

    Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. [genecards.org]

    Indeed, deletions at 16p12-p11 have recently been detected in four patients with sporadic microdeletion syndrome consisting of developmental disabilities, 83 but none of the four patients had ever shown epileptic seizures or abnormal involuntary movements [doi.org]

  • Cognitive Disorder

    Deep sequencing reveals 50 novel genes for reces- sive cognitive disorders. Nature 478, 5763. 20. [docslide.net]

  • Normal Interictal EEG

    interictal EEG Basal ganglia calcification Acrania Cerebral calcification Memory impairment Dementia Hallucinations Slurred speech Visual hallucinations Neurological speech impairment Focal seizures with impairment of consciousness or awareness Cyanosis [mendelian.co]

  • EEG Suppression

    / Epilepsy Research 70S (2006) S174S184manifested unilateral EEG suppression at the onset ofhis attacks. [documents.tips]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.com]

Without treatment, dyskinetic attacks tend to disappear during adulthood. Last updated: 7/1/2013 [rarediseases.info.nih.gov]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

In all patients, abnormal movements disappeared at 25–30 years of age without any treatment. Since the first report similar clinical presentations have been published which confirm the specificity of the ICCA syndrome. [en.wikipedia.org]

Prognosis ICCA has a good outcome. Without treatment, dyskinetic attacks tend to disappear during adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]

Neurologists and paediatricians should be familiar with these conditions because accurate diagnosis, and its consequent good prognosis, may save much suffering to the family. [books.google.com]

Prognosis ICCA has a good outcome. Without treatment, dyskinetic attacks tend to disappear during adulthood. Last updated: 7/1/2013 [rarediseases.info.nih.gov]

Accurate diagnosis is very important as it is amenable to low-dose anticonvulsant treatment and in general of good prognosis. In agreement with other studies, our family may not be related to SLC5A11 gene mutation. [ashg.org]

Etiology The genetic loci of ICCA syndrome have been described on chromosomes 16p11.2-q12.1, 16q13-q22.1 and 3q29-29. [orpha.net]

Considering our findings and those reported in literature, 23 PRRT2 mutations explain similar to 56% of the families analyzed.Conclusions: PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile [rug.nl]

PRRT2 mutations are the major cause of PKD or ICCA, but they are not involved in the etiology of febrile convulsions and migraine. [pediatricneurologybriefs.com]

Conclusions: PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile convulsions and migraine. [neurology.org]

Summary Epidemiology This disorder is rare but the exact prevalence is unknown. Clinical description Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. [orpha.net]

Epidemiology This disorder is rare but the exact prevalence is unknown. Clinical description Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. [rarediseases.info.nih.gov]

Common clinical features, epidemiological studies, shared therapeutic strategies, and familial co-inheritance all argue in favour of close relationships between various epileptic syndromes and other paroxysmal disorders of the brain, 35 such as migraine [doi.org]

The pathophysiology of PD remains largely unknown. [doi.org]

Alterations of ion channel and ion pump subunits could provide a simple, albeit probably non-unique, explanation for the pathophysiology of the link between epilepsy and PD. [ncbi.nlm.nih.gov]

[…] h the clinical features of PKC are wellthe pathophysiology still remains a matterrsy. Historically PKC has been ascribed toorm of reflex epilepsy. [documents.tips]

Evidence for shared pathophysiologic mechanisms underlying the concurrence of benign infantile convulsions (IC) and of PKD in the same patients or families was obtained [ 8, 13 ]. [mdpi.com]

It is considered a migraine variant as there is often a family history of migraine headache, though the pathophysiology is not well understood. Usually no trigger to a particular episode can be defined. [epilepsydiagnosis.org]

The retained awareness and history of triggers should prevent misdiagnosis as focal seizures. [epilepsydiagnosis.org]