Infantile-Onset Seizures: Causes & Reasons

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Possible Causes for Infantile-Onset Seizures

Developmental and Epileptic Encephalopathy Type 2

A disorder (OMIM:612164) characterised by neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination [medical-dictionary.thefreedictionary.com]

Conclusions This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset [dx.doi.org]

The boy developed infantile-onset tonic-clonic and tonic seizures, then spasms in clusters. [ncbi.nlm.nih.gov]

Benign Familial Infantile Epilepsy Type 4

With benign familial infantile epilepsy, the seizures onset from four to eight months of age.[2] Some cases of nonfamilial benign infantile seizures occur during a case of [en.wikipedia.org]

seizures, is a syndrome characterized by the onset of seizures in the infantile period. [epilepsydiagnosis.org]

[…] or showed both neonatal and infantile seizures, and BFIS when the onset of seizures was after 4 months of age in all family members. [onlinelibrary.wiley.com]

Familial Infantile Myoclonic Epilepsy

seizures, is a syndrome characterized by the onset of seizures in the infantile period. [epilepsydiagnosis.org]

Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. [ncbi.nlm.nih.gov]

Proud Syndrome

April 5, 2016, 4:08 PM UTC / Source: TODAY An Iowa woman with Down syndrome is out to show the world that having a disability doesn't mean she can't be beautiful. And she's doing it in a big way: Katie Meade, 32, was recently revealed as the face of a hair-care brand, Beauty & Pin-Ups. Meade, who was also born with[…] [today.com]

Infantile Convulsions and Choreoathetosis

The seizure onset age of infantile convulsions was between 3 and 12 months. The onset age of PKD was ranging from 5 to 17 years old. [pesquisa.bvsalud.org]

Learn more Other less relevant matches: Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic [mendelian.co]

seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. [altmetric.com]

Developmental and Epileptic Encephalopathy Type 15

CK Syndrome

McLarren, K. W., Severson, T. M., Du Souich, C., Stockton, D. W., Kratz, L., Cunningham, D., ... Boerkoel, C. F. (2010). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics, 87 (6), 905-914. https://doi.org/10.1016/j.ajhg.2010.11.004 Hypomorphic temperature-sensitive alleles[…] [jhu.pure.elsevier.com]

Developmental and Epileptic Encephalopathy Type 19

OMIM : 56 Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated [malacards.org]

[…] development, early-onset seizures, severe developmental regression, and normocytic anemia. [malacards.org]

OMIM : 56 Epileptic encephalopathy-9 is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. [malacards.org]

Amish Infantile Epilepsy Syndrome

References Article Title: Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase Simpson MA, Cross H, Proukakis C, [disorders.eyes.arizona.edu]

Seizures respond poorly to anti-epileptic medications. [disorders.eyes.arizona.edu]

3-Phosphoglycerate Dehydrogenase Deficiency

Abstract 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe [ncbi.nlm.nih.gov]

3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor [metabolomicscentre.nl]

onset of intractable seizures. [genome.jp]

Infantile 3-Phosphoglycerate Dehydrogenase Deficiency

onset of intractable seizures and severe psychomotor retardation. [semanticscholar.org]

Administration of serine during pregnancy has been used to manage the infantile onset form and oral serine has proven to prevent seizures in the juvenile onset form. [nxgenmdx.com]

Amino acid analysis showed serine values in CSF and plasma identical to what is observed in the severe infantile form. [scipers.com]

Developmental and Epileptic Encephalopathy Type 26

This finding provided further evidence that infantile onset seizures with spike-and-wave discharges are a key feature of KCNB1-associated epilepsy. [docksci.com]

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006 ; 43 : 729 –34. 19. Suri, M. [cambridge.org]

Clinical Variability {19:Scheffer et al. (2002)} reported a family in which 6 boys over 2 generations were affected with infantile-onset of seizures, including myoclonic seizures [bio2rdf.org]

STXBP1-Related Disorder

Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination. [genecards.org]

A broad spectrum of seizure types has been reported, including infantile or epileptic spasms, focal-onset seizures, and tonic seizures; up to 40% of children with STXBPI-related [rarediseases.org]

A novel STXBP1 mutation causes focal seizures with neonatal onset. J Child Neurol. 2012;27:811–814. Google Scholar | SAGE Journals | ISI4. Saitsu, H, Kato, M, Okada, I. [journals.sagepub.com]

Developmental and Epileptic Encephalopathy Type 4

Early-onset epileptic encephalopathies are characterized by severe seizures (often infantile spasms), very frequent interictal epileptiform activity on a disorganized EEG [n.neurology.org]

The key feature of EIEE is onset of frequent and/or severe seizures within the first few weeks of life (Noh et al. 2012. PubMed ID: 22342633). [preventiongenetics.com]

Condition Description Shen et al. (2010) describes an autosomal recessive disorder, early infantile epileptic encephalopathy type 10, characterized by microcephaly, early-onset [egl-eurofins.com]

Benign Familial Neonatal Epilepsy Type 3

Differential diagnosis Differential diagnosis includes benign familial neonatal-infantile seizures (see this term), an epileptic syndrome with an intermediate onset between [orpha.net]

(BFNS) and benign familial infantile seizures (BFIS; see these terms). [rarediseases.info.nih.gov]

[…] the neonatal and infantile age that shares overlapping clinical characteristics with BFIE and that is mainly due to mutations in the SCN2A gene. [orpha.net]

Developmental and Epileptic Encephalopathy Type 12

DESCRIPTION MMPSI is an early form of infantile epileptic encephalopathy. Seizure onset peaks between the first and third month of age. [amplexa.com]

OBJECTIVE: To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI). [ncbi.nlm.nih.gov]

[DS: H00577 ] Description Malignant migrating partial seizures in infancy (MMPSI) are rare, severe early infantile onset epileptic encephalopathy. [genome.jp]

Developmental and Epileptic Encephalopathy

ALG13 -related EIEE is characterized by infantile onset of seizures and developmental delay. [epilepsygenetics.net]

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006 ; 43 : 729 –34. 19. Suri, M. [cambridge.org]

Neurol India 2017;65:801-3 Key Message: Dravet syndrome, a form of early infantile epileptic encephalopathy, is characterized by early onset, refractory seizures despite the [neurologyindia.com]

Developmental and Epileptic Encephalopathy Type 18

Katherine Brooke Howell Abstract The severe epilepsies of infancy (SEI) are a group of infantile-onset seizure disorders characterised by frequent seizures, abnormal EEG and [minerva-access.unimelb.edu.au]

“CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients”. (2006) J Med Genet, 43:729-734. 6. Elia M, et al. [ncbi.nlm.nih.gov]

The phenotype included infantile onset of tonic-clonic or tonic seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination [germaco.net]

Hereditary Cryohydrocytosis with Normal Stomatin

Main symptoms are infantile-onset seizures refractory to anticonvulsant medications, an acquired microcephaly, and developmental delay and movement disorders. [thieme-connect.com]

The differential diagnosis of infantile-onset seizures refractory to anticonvulsant medications in combination with cataract should contain the GLUT-1 deficiency syndrome. [thieme-connect.com]

46,XY Gonadal Dysgenesis - Motor and Sensory Neuropathy Syndrome

seizures and developmental delay autosomal recessive microcephaly infantile-onset seizures and developmental delay (MCSZ) Autosomal recessive non-specific intellectual disability [acronymattic.com]

Hemiplegia of Childhood Ambiguous genitalia Angelman syndrome Aniridia Arthrogryposis asymmetrical polymicrogyria Ataxia atypical Rett syndrome autosomal recessive microcephaly infantile-onset [acronymattic.com]

[…] disease Microcephalic Osteodysplastic Primordial Dwarfism type I Microcephalic Osteodysplastic Primordial Dwarfism type II microcephaly microcephaly (primary) microcephaly infantile-onset [acronymattic.com]

GLUT1 Deficiency Syndrome

The classic phenotype of GLUT1DS includes infantile-onset seizures, developmental delay, acquired microcephaly, and complex movement disorders. [invitae.com]

Clinical features usually comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly [ncbi.nlm.nih.gov]

The most common phenotype currently known consists of infantile-onset seizures primarily of the absence type, acquired microcephaly, spasticity, ataxia, and abnormal neuropsychological [jamanetwork.com]

Generalized Epilepsy with Febrile Seizures Plus

We excluded SCN1A, SCN1B, and GABRG2 genes with linkage analysis in a large pedigree and directly sequenced SCN2A in a family with neonatal-infantile seizures onset. [ncbi.nlm.nih.gov]

Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome. [ncbi.nlm.nih.gov]

The GEFS+ spectrum comprises a range of mild to severe phenotypes varying from classical febrile seizures to Dravet syndrome. [ncbi.nlm.nih.gov]

Developmental and Epileptic Encephalopathy Type 13

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006 ; 43 : 729 –34. 19. Suri, M. [cambridge.org]

The boy developed infantile-onset tonic-clonic and tonic seizures, then spasms in clusters. [readbyqxmd.com]

[…] characterized by multiple seizure types (generalized tonic-clonic seizures, infantile spasms, and absence and focal seizures). [ncbi.nlm.nih.gov]

Generalized Epilepsy - Paroxysmal Dyskinesia Syndrome

Infantile onset seizures, acquired microcephaly, spasticity, ataxia, dystonia and mental retardation are the cardinal features of the syndrome. [content.iospress.com]

Similarity with ICCA Infantile paroxysmal dyskinesia Transient paroxysmal dystonia of infancy – Onset in first months of life Sporadic ? ? Infantile variant of PKD? [neupsykey.com]

For example, mutations in SCN2A, encoding the voltage-gated Na + channel, Nav 1.2, cause benign familial neonatal-infantile seizures but can also contribute to later onset [e-jmd.org]

Atypical Glycine Encephalopathy

Surviving infants have profound intellectual disability and intractable seizures. The infantile form is characterized by hypotonia, developmental delay, and seizures. [genetaq.com]

Infantile form: Symptoms start only after 6 months of age, as intellectual disability, abnormal movements, and behavioral problems Late onset: Symptoms include tightness or [rarediseases.info.nih.gov]

The atypical forms range from milder disease, with onset from late infancy to adulthood, to rapidly progressing and severe disease with late onset. [genetaq.com]

Episodic Ataxia

CONCLUSIONS: A KCNA2 mutation caused dominantly inherited episodic ataxia, mild infantile-onset seizures, and later generalized and focal epilepsies in the setting of normal [ncbi.nlm.nih.gov]

Conclusions: A KCNA2 mutation caused dominantly inherited episodic ataxia, mild infantile-onset seizures, and later generalized and focal epilepsies in the setting of normal [scholars.northwestern.edu]

Mutations in SCN2A, encoding the brain sodium channel Na(V)1.2, have previously been reported to be associated with benign familial neonatal infantile seizures, febrile seizures [ncbi.nlm.nih.gov]

Developmental and Epileptic Encephalopathy Type 9

The identification of a De novo PCDH19 mutation in a sporadic female highlights that mutation analysis should be considered in isolated instances of girls with infantile onset [ashg.org]

0002123 Generalized tonic-clonic seizures Grand mal seizures 0002069 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Psychosis 0000709 Status [rarediseases.info.nih.gov]

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. [rarediseases.org]

Epileptic Encephalopathy

Abstract We report an individual who presented with severe neurodevelopmental delay and an intractable infantile-onset seizure disorder. [ncbi.nlm.nih.gov]

Conclusions This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset [dx.doi.org]

Seizure types were variable, including infantile spasms and myoclonic seizures, and often prolonged. [ncbi.nlm.nih.gov]

Developmental and Epileptic Encephalopathy Type 24

From NCBI Gene : Epileptic encephalopathy, early infantile, 24 From UniProt : Epileptic encephalopathy, early infantile, 24 (EIEE24): A disease characterized by early-onset [ghr.nlm.nih.gov]

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. [rarediseases.org]

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006 ; 43 : 729 –34. 19. Suri, M. [cambridge.org]

Alexander Disease

We conducted a nationwide survey and a clinical study, and classified AxD into three types: cerebral AxD (type 1), which primarily has an infantile onset with presence of [ncbi.nlm.nih.gov]

This disorder can develop as an infantile, juvenile or adult-onset form and is characterized by several clinical features, including macrocephaly, seizures, ataxia, and bulbar [ncbi.nlm.nih.gov]

In infantile-onset cases, ataxia, hyperreflexia and pyramidal signs are seen along with seizures. [orpha.net]