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]

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]

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]

Developmental and Epileptic Encephalopathy Type 15

SUMMARY Introduction: Epileptic encephalopathies starting within the first year of life are a group of etiologically and clinically heterogeneous disorders in which cognitive, sensory, and/or motor functions deteriorate mainly as a consequence of epileptic activity. Many etiological factors including hereditary and[…] [research.unipd.it]

CK Syndrome

DISEASE: CK syndrome Entry H01917 Disease Name CK syndrome Supergrp X-linked syndromic intellectual developmental disorder [DS:H00658] Description CK syndrome (CKS) is a recently described X-linked recessive disorder that affects males. It is characterized by mild to severe cognitive impairment, seizures beginning[…] [genome.jp]

Spastic Tetraplegia - Thin Corpus Callosum - Progressive Postnatal Microcephaly

[…] the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. [orpha.net]

onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting [orpha.net]

[…] tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Disease definition A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile [orpha.net]

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]

Monosomy 2pter-p24

Age of seizure onset is not well defined, but generally they start in infancy or childhood [9–11]. [ijponline.biomedcentral.com]

Age of seizure onset is not well defined, but generally they start in infancy or childhood [9-11]. [ncbi.nlm.nih.gov]

Most are generalized convulsions, but infantile spasms or complex partial seizures are also reported [72]. [ijponline.biomedcentral.com]

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 1

It has an early onset and symptoms generally occur before the age of one, with seizures often beginning before the tenth day of life. [news-medical.net]

Early infantile epileptic encephalopathy (EIEE), also called Ohtahara syndrome, is a rare disorder characterized by infantile spasms. [news-medical.net]

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 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]

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 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]

Nivelon-Nivelon-Mabille Syndrome

onset seizures, and cerebellar vermis hypoplasia. [genome.jp]

Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile [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]

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]

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]

[…] than males) Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy Intellectual disability Infantile-onset seizures Tags Green Green [panelapp.genomicsengland.co.uk]

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

KCNQ2-Related Disorders

In a group of 84 patients with early neonatal or infantile seizures and associated developmental impairment, mutations in KCNQ2 were identified in 11 patients (13%). [europeankcnq2association.com]

[…] of KCNQ2 (neonatal onset, epileptic encephalopathy). [europeankcnq2association.com]

Several researchers have attempted to determine the frequency of this disorder by testing groups of children with undiagnosed seizure disorders who share some of the characteristics [europeankcnq2association.com]

Childhood-Onset Epileptic Encephalopathy

It has an early onset and symptoms generally occur before the age of one, with seizures often beginning before the tenth day of life. [news-medical.net]

Early infantile epileptic encephalopathy (EIEE), also called Ohtahara syndrome, is a rare disorder characterized by infantile spasms. [news-medical.net]

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]

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]

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]

seizures and developmental delay, in addition to those with the characteristic family history of EFMR. [dx.doi.org]

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]