A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

2010 ◽  
Vol 32 (3) ◽  
pp. 248-252 ◽  
Author(s):  
Antonietta Coppola ◽  
Pasquale Striano ◽  
Stefania Gimelli ◽  
Clotilde Ciampa ◽  
Lia Santulli ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Pharmacoresistant Epilepsy

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

1997 ◽  
Vol 34 (9) ◽  
pp. 772-776 ◽  
Author(s):  
T Cai ◽  
D A Tagle ◽  
X Xia ◽  
P Yu ◽  
X X He ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia

2011 ◽  
Vol 54 (1) ◽  
pp. 94-96 ◽  
Author(s):  
S. Gimelli ◽  
P. Makrythanasis ◽  
C. Stouder ◽  
S.E. Antonarakis ◽  
A. Bottani ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cleft Palate ◽  
High Myopia ◽  
De Novo ◽  
Severe Mental Retardation

scholarly journals Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2

2019 ◽  
Vol 96 (2) ◽  
pp. 183-185
Author(s):  
Wayne M. Jepsen ◽  
Keri Ramsey ◽  
Szabolcs Szelinger ◽  
Lorida Llaci ◽  
Chris Balak ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
De Novo Mutations

scholarly journals Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).

1991 ◽  
Vol 28 (4) ◽  
pp. 282-283 ◽  
Author(s):  
J P Park ◽  
J B Moeschler ◽  
S Z Berg ◽  
D H Wurster-Hill
Keyword(s):  
Mental Retardation ◽  
Adult Male ◽  
De Novo ◽  
Interstitial Deletion
Sign in / Sign up

Export Citation Format

Share Document